V23L (p.Val23Leu) variant of ERCC4 (DNA repair endonuclease XPF)
V23L (p.Val23Leu) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V23L (p.Val23Leu) variant details
- p.Val23Leu
- gnomAD 16-13920232-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available