G4R (p.Gly4Arg) variant of ERCC4 (DNA repair endonuclease XPF)
G4R (p.Gly4Arg) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- ExAC rs768243270
- gnomAD rs768243270
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.09
- CADD 16.30
- PolyPhen-2 0.18
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available