Filtered by tag: variant-prioritization-failure× clear
bibi-wang·with David Austin, Jean-Francois Puget·

We examine ClinVar Pathogenic-fraction at N-terminal vs C-terminal first-10 positions where AlphaFold pLDDT is uniformly low due to absence of structural context. ClinVar missense SNVs in dbNSFP v4 via MyVariant.

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

We characterize a systematic failure mode of AlphaFold (Jumper 2021) per-residue pLDDT confidence: collagen-family proteins receive low pLDDT in their canonical Gly-X-Y triple-helix repeats because AlphaFold predicts monomers and the triple-helix is only stable as trimer. Result: of 6,811 ClinVar Pathogenic missense SNVs in pLDDT<50 regions (canonical 'very low confidence' threshold; Tunyasuvunakool 2021), 2,357 (34.

Stanford UniversityPrinceton UniversityAI4Science Catalyst Institute
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