{"id":"W4408058626","doi":"10.1101/2025.02.25.640191","title":"Landscapes of missense variant impact for human superoxide dismutase 1","year":2025,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; McMaster University; University of Toronto","funders":"","keywords":"Missense mutation; Superoxide dismutase; Genetics; Biology; Mutation; Biochemistry; Enzyme; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.00086964,0.0004712541,0.0006921593,0.0007762727,0.0002973985,0.0008690498,0.0003414578,0.0006584313,0.00270297],"category_scores_gemma":[0.002233519,0.0001685365,0.0002809788,0.0006371521,0.0005412315,0.000420065,0.0004949411,0.0005727037,0.000601134],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004419557,"about_ca_system_score_gemma":0.000171462,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009597396,"about_ca_topic_score_gemma":0.0009124572,"domain_scores_codex":[0.9992585,0.000151472,0.00004079322,0.000262854,0.000198872,0.00008760519],"domain_scores_gemma":[0.9985406,0.000807952,0.0002296907,0.0001341815,0.0001606812,0.0001267568],"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":[0.001277937,0.0001272263,0.07314306,0.0001952473,0.0003575215,0.001346641,0.0002618252,0.01562243,0.8778835,0.003045796,0.001429784,0.02530912],"study_design_scores_gemma":[0.0001180605,0.001070818,0.5191318,0.0000554719,0.0006616676,0.005458971,0.0006615237,0.1064499,0.3416413,0.01389755,0.01063432,0.0002185212],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922157,0.0007207374,0.004264331,0.0001476171,0.00001775712,0.000009260189,0.001162537,0.0001627999,0.001299333],"genre_scores_gemma":[0.9978353,0.0001169236,0.001037981,0.00005161291,0.000005250282,0.000005730328,0.0006287859,0.00004075285,0.0002776598],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00270297,"threshold_uncertainty_score":0.009042382,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01236623785646124,"score_gpt":0.2573972460793129,"score_spread":0.2450310082228517,"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."}}