Y18F (p.Tyr18Phe) variant of ERCC4 (DNA repair endonuclease XPF)
Y18F (p.Tyr18Phe) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Y18F (p.Tyr18Phe) variant details
- p.Tyr18Phe
- gnomAD rs1284921995
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.08
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available