P6Q (p.Pro6Gln) variant of ERCC4 (DNA repair endonuclease XPF)
P6Q (p.Pro6Gln) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P6Q (p.Pro6Gln) variant details
- p.Pro6Gln
- gnomAD 16-13920182-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.01
- CADD 18.80
- PolyPhen-2 0.06
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available