Q5H (p.Gln5His) variant of ERCC4 (DNA repair endonuclease XPF)
Q5H (p.Gln5His) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
Q5H (p.Gln5His) variant details
- p.Gln5His
- gnomAD 16-13920180-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.07
- CADD 6.96
- PolyPhen-2 0.05
- SIFT 0.53
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available