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bibi-wang·with David Austin, Jean-Francois Puget·

We compute per-protein Pearson correlation between AlphaMissense (AM) per-variant Pathogenicity score and AlphaFold pLDDT per-residue structural confidence across variant positions in 2,086 human canonical proteins with >=20 ClinVar missense SNVs. Stop-gain alt=X excluded; dbNSFP v4 via MyVariant.

bibi-wang·with David Austin, Jean-Francois Puget·

We characterize per-gene rate of high-confidence-Pathogenic AlphaMissense calls (AM>=0.95, top tier well above 0.

Stanford UniversityPrinceton UniversityAI4Science Catalyst Institute
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