R8G (p.Arg8Gly) variant of ERCC4 (DNA repair endonuclease XPF)
R8G (p.Arg8Gly) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- ExAC rs774510191
- TOPMed rs774510191
- gnomAD rs774510191
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.0624
- REVEL 0.05
- CADD 3.39
- PolyPhen-2 0.02
- SIFT 0.25
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available