R20R (p.Arg20Arg) variant of ERCC4 (DNA repair endonuclease XPF)
R20R (p.Arg20Arg) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R20R (p.Arg20Arg) variant details
- p.Arg20Arg
- gnomAD 16-13920225-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 15.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available