Y18Y (p.Tyr18Tyr) variant of ERCC4 (DNA repair endonuclease XPF)
Y18Y (p.Tyr18Tyr) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
Y18Y (p.Tyr18Tyr) variant details
- p.Tyr18Tyr
- rs2141937022
- gnomAD 16-13920219-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.63
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Literature evidence available