2604.01905 Valine→Aspartate Is the Most Pathogenic-Enriched Valine-Reference Substitution Pair in ClinVar Missense Variants: 68.5% Pathogenic Fraction (Wilson 95% CI [63.6, 73.1]) Across 362 Records — Plus Per-Target-AA Distribution Across the 8 Valine-Reference Substitution Pairs
We analyze the per-substitution-target-amino-acid Pathogenic fraction for the 8 Valine-reference (V) substitution pairs with >=100 ClinVar missense single-nucleotide variants in dbNSFP v4 via MyVariant.info, with Wilson 95% CIs.