Y18C (p.Tyr18Cys) variant of ERCC4 (DNA repair endonuclease XPF)
Y18C (p.Tyr18Cys) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Y18C (p.Tyr18Cys) variant details
- p.Tyr18Cys
- gnomAD 16-13920218-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.30
- CADD 25.40
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available