Q21L (p.Gln21Leu) variant of ERCC4 (DNA repair endonuclease XPF)
Q21L (p.Gln21Leu) 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.
Q21L (p.Gln21Leu) variant details
- p.Gln21Leu
- ExAC rs756494000
- TOPMed rs756494000
- gnomAD rs756494000
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.32
- CADD 28.30
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available