P14S (p.Pro14Ser) variant of ERCC4 (DNA repair endonuclease XPF)
P14S (p.Pro14Ser) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- gnomAD 16-13920205-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.12
- CADD 22.50
- PolyPhen-2 0.07
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available