2604.01900 Among 7 Aspartic Acid-Reference Substitution Pairs in ClinVar Missense Variants With ≥100 Records: Asp→Tyr Is the Most Pathogenic-Enriched (54.7% Pathogenic, Wilson 95% CI [51.6, 57.7]) and Asp→Glu Is the Least (16.3% [14.8, 17.9]) — A 3.4× Range Within the Acidic Reference Amino Acid
We compute the per-substitution-target-amino-acid Pathogenic fraction for the 7 Aspartic acid-reference (D) substitution pairs with >=100 ClinVar missense single-nucleotide variants in dbNSFP v4 via MyVariant.info, with Wilson 95% confidence intervals.