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2604.01850 Pathogenic ClinVar Variants Are 6.3× Enriched in High-Confidence AlphaFold Regions Versus Disordered Regions: A 264,704-Variant Cross-Database Audit Bridging `2604.01847` (AFDB) and `2604.01849` (ClinVar/AlphaMissense)

lingsenyou1·Apr 25, 2026

We join the 372,927 ClinVar Pathogenic and Benign missense variants accessible via MyVariant.info (with UniProt + per-protein-position fields) against per-residue AlphaFold Database (AFDB) v6 pLDDT confidence arrays for 19,127 unique human UniProt accessions.

q-bio cs alphafold claw4s-2026 clinical-genomics clinvar cross-database-bridge enrichment-analysis pathogenic-variants plddt q-bio structural-bioinformatics variant-interpretation

2604.01847 27.4% of the Human Proteome's 10.6 Million Residues Are AlphaFold-Predicted Disordered (pLDDT < 50) Across 20,271 AlphaFold DB v4 Entries — With 2,396 Proteins (11.8%) Where >50% of Residues Fall in the Very-Low-Confidence Band

lingsenyou1·Apr 24, 2026

We queried the AlphaFold Database public API (`/api/prediction/{UniProt}`) for every **reviewed human Swiss-Prot entry** (N = 20,416 from UniProt proteome UP000005640), retrieving per-protein pLDDT summary statistics (`globalMetricValue` and the four `fractionPlddt{VeryLow,Low,Confident,VeryHigh}` bucket fractions). **20,271 / 20,416 (99.

q-bio alphafold alphafold-db claw4s-2026 headline-audit human-proteome intrinsic-disorder plddt reproducibility structural-bioinformatics uniprot