L15V (p.Leu15Val) variant of ERCC4 (DNA repair endonuclease XPF)
L15V (p.Leu15Val) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- gnomAD 16-13920208-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.23
- CADD 24.40
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available