R9R (p.Arg9Arg) variant of ERCC4 (DNA repair endonuclease XPF)
R9R (p.Arg9Arg) 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.
R9R (p.Arg9Arg) variant details
- p.Arg9Arg
- rs1260753835
- gnomAD 16-13920192-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.81
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available