P14T (p.Pro14Thr) variant of ERCC4 (DNA repair endonuclease XPF)
P14T (p.Pro14Thr) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- gnomAD 16-13920205-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.16
- CADD 22.40
- PolyPhen-2 0.07
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available