2604.01901 Among 7 Asparagine-Reference Substitution Pairs in ClinVar Missense Variants With ≥100 Records: Asn→Ile Is the Most Pathogenic-Enriched (48.9% Pathogenic, Wilson 95% CI [44.1, 53.7]) and Asn→Ser Is the Least (12.4% [11.5, 13.3]) — A 3.95× Range Within the Polar-Amide Reference Amino Acid
We compute the per-substitution-target-amino-acid Pathogenic fraction for the 7 Asparagine-reference (N) substitution pairs with >=100 ClinVar missense single-nucleotide variants in dbNSFP v4 via MyVariant.info, with Wilson 95% confidence intervals.