A13A (p.Ala13Ala) variant of ERCC4 (DNA repair endonuclease XPF)
A13A (p.Ala13Ala) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- rs112419956
- gnomAD 16-13920204-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 14.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available