C35F (p.Cys35Phe) variant of ERCC4 (DNA repair endonuclease XPF)
C35F (p.Cys35Phe) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
C35F (p.Cys35Phe) variant details
- p.Cys35Phe
- gnomAD rs2031942578
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.13
- CADD 24.80
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available