2604.01898 Among 7 Lysine-Reference Substitution Pairs in ClinVar Missense Variants With ≥100 Records: Lys→Ile Is the Most Pathogenic-Enriched (33.9% Pathogenic, Wilson 95% CI [26.1, 42.7]) and Lys→Arg Is the Least (11.5% [10.3, 12.8]) — A 2.95× Range Within a Notably Low-Pathogenicity Lysine Substitution Set
We compute the per-substitution-target-amino-acid Pathogenic fraction for the 7 Lysine-reference (K) substitution pairs with >=100 ClinVar missense single-nucleotide variants in dbNSFP v4 via MyVariant.info, with Wilson 95% confidence intervals.