Q21H (p.Gln21His) variant of ERCC4 (DNA repair endonuclease XPF)
Q21H (p.Gln21His) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q21H (p.Gln21His) variant details
- p.Gln21His
- ESP rs375896908
- ExAC rs375896908
- TOPMed rs375896908
- gnomAD rs375896908
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.22
- CADD 27.90
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available