C35Y (p.Cys35Tyr) variant of ERCC4 (DNA repair endonuclease XPF)
C35Y (p.Cys35Tyr) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
C35Y (p.Cys35Tyr) variant details
- p.Cys35Tyr
- gnomAD rs2031942578
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.21
- CADD 27.60
- PolyPhen-2 0.49
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available