2604.01884 Distribution of ClinVar Missense Variants Along the Protein: Pathogenic Variants Peak in the [0.3, 0.4) Relative-Position Decile (11.69% of Pathogenic) With P/B Share-Ratio 1.25; Benign Variants Are Slightly Bimodal at the N-Terminus (11.22%) and C-Terminus (11.83%) — A Per-Decile Wilson-CI Analysis Across 196,105 Missense-Only Records
We compute the per-decile distribution of relative variant position (aa.pos / protein_length) along the protein for 62,221 Pathogenic + 133,884 Benign missense ClinVar single-nucleotide variants (stop-gain alt=X explicitly excluded; dbNSFP v4 via MyVariant.