L32V (p.Leu32Val) variant of ERCC4 (DNA repair endonuclease XPF)
L32V (p.Leu32Val) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- gnomAD rs1451460766
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.51
- CADD 26.50
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available