A13E (p.Ala13Glu) variant of ERCC4 (DNA repair endonuclease XPF)
A13E (p.Ala13Glu) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- ExAC rs751008601
- TOPMed rs751008601
- gnomAD rs751008601
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.27
- CADD 25.80
- PolyPhen-2 0.47
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available