E25V (p.Glu25Val) variant of ERCC4 (DNA repair endonuclease XPF)
E25V (p.Glu25Val) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E25V (p.Glu25Val) variant details
- p.Glu25Val
- ExAC rs745893266
- TOPMed rs745893266
- gnomAD rs745893266
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.20
- CADD 32.00
- PolyPhen-2 0.65
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available