P6T (p.Pro6Thr) variant of ERCC4 (DNA repair endonuclease XPF)
P6T (p.Pro6Thr) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- gnomAD 16-13920181-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.04
- CADD 8.78
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available