C35C (p.Cys35Cys) variant of ERCC4 (DNA repair endonuclease XPF)
C35C (p.Cys35Cys) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
C35C (p.Cys35Cys) variant details
- p.Cys35Cys
- rs762885804
- gnomAD 16-13920270-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 13.70
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Literature evidence available