Q21K (p.Gln21Lys) variant of ERCC4 (DNA repair endonuclease XPF)
Q21K (p.Gln21Lys) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q21K (p.Gln21Lys) variant details
- p.Gln21Lys
- gnomAD 16-13920226-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.13
- CADD 24.40
- PolyPhen-2 0.42
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available