L22V (p.Leu22Val) variant of ERCC4 (DNA repair endonuclease XPF)
L22V (p.Leu22Val) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- Ensembl rs2031940688
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.04
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available