V23G (p.Val23Gly) variant of ERCC4 (DNA repair endonuclease XPF)
V23G (p.Val23Gly) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V23G (p.Val23Gly) variant details
- p.Val23Gly
- 1000Genomes rs1291749487
- gnomAD rs1291749487
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.21
- CADD 25.10
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available