R8R (p.Arg8Arg) variant of ERCC4 (DNA repair endonuclease XPF)
R8R (p.Arg8Arg) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- rs774510191
- gnomAD 16-13920187-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.26
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available