{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009142429,0.0007014986,0.0004473679,0.002221768,0.0003000053,0.0006851322,0.0004863606,0.0008270284,0.002680515],"category_scores_gemma":[0.003371421,0.000128192,0.0004479019,0.001223161,0.000193906,0.0003442491,0.0004249563,0.0003398518,0.0007356527],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002242113,"about_ca_system_score_gemma":0.0005027741,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001036212,"about_ca_topic_score_gemma":0.002760282,"domain_scores_codex":[0.9994912,0.000100428,0.00007423564,0.0002035866,0.00008812061,0.00004239334],"domain_scores_gemma":[0.997319,0.001679798,0.0004395277,0.0001295186,0.0002340493,0.0001979769],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.002820966,0.0001678943,0.8903682,0.0009639545,0.0003009719,0.004002809,0.0001302522,0.01253986,0.02178237,0.0003790184,0.01381043,0.05273328],"study_design_scores_gemma":[0.000776612,0.001089399,0.5998449,0.0002982197,0.000830363,0.0274683,0.0004053452,0.3179709,0.02759003,0.003005338,0.02060647,0.0001140406],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9646444,0.001900906,0.009495068,0.0003421807,0.0000507547,0.00007757657,0.02079905,0.001441278,0.001248879],"genre_scores_gemma":[0.9454702,0.0003831422,0.01904201,0.000125573,0.00006791954,0.00005014917,0.03451756,0.00007530637,0.0002679949],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002680515,"threshold_uncertainty_score":0.008967221,"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."}}