2604.01896 Per-Variant UniProt-Isoform Multiplicity in 372,927 ClinVar Pathogenic + Benign Records: Variants Annotated to ≥10 UniProt Isoforms Have a Pathogenic-to-Benign Share Ratio of 1.93×–3.36× (Wilson 95% CIs Reported), vs the Single-Isoform Subset Where the Ratio Is 0.70× (Pathogenic-Underrepresented)
We compute the per-variant UniProt-isoform-multiplicity distribution of ClinVar Pathogenic + Benign single-nucleotide variants annotated by dbNSFP v4 via MyVariant.info — specifically, the number of UniProt accessions in dbnsfp.