{"id":"W3192866972","doi":"10.3390/membranes11080599","title":"L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance","year":2021,"lang":"en","type":"article","venue":"Membranes","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"Natural Sciences and Engineering Research Council of Canada; Russian Science Foundation","keywords":"In silico; Missense mutation; Pathogenicity; Biology; Genetics; Gene; Computational biology; Bioinformatics; Mutation; Microbiology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003032185,0.0001668111,0.0002798934,0.00002312519,0.00008390008,0.00001790278,0.0001658266,0.0001779001,0.00002400847],"category_scores_gemma":[0.0005600392,0.0001606131,0.0002237075,0.0001087357,0.00007365938,0.000003330208,0.00009703759,0.00006791746,0.000003000413],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007869214,"about_ca_system_score_gemma":0.0004938656,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002374158,"about_ca_topic_score_gemma":0.00002953267,"domain_scores_codex":[0.9984741,0.0001164173,0.0004442532,0.0004923617,0.0001164064,0.0003565226],"domain_scores_gemma":[0.9988737,0.00007605485,0.0001646257,0.0003942585,0.0003378991,0.0001534426],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003322505,0.0002086146,0.00634209,0.0002107958,0.0001512311,0.00003653287,0.0000599642,0.0003851055,0.9903057,0.00003965932,0.0004092335,0.001518804],"study_design_scores_gemma":[0.006117379,0.002562077,0.08191034,0.0001611423,0.0006358988,0.0001423656,0.001322507,0.003564569,0.8291242,0.0007957926,0.07219847,0.00146532],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915112,0.005831786,0.0007488404,0.00006685298,0.0007395798,0.0002874763,0.0006605908,0.00001364783,0.0001400093],"genre_scores_gemma":[0.99627,0.001176437,0.0007768327,0.0002016588,0.0004696092,0.00003337122,0.0006094041,0.00003642919,0.0004262288],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1611816,"threshold_uncertainty_score":0.6549612,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04029166115359235,"score_gpt":0.3179450735035333,"score_spread":0.277653412349941,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}