E19D (p.Glu19Asp) variant of ERCC4 (DNA repair endonuclease XPF)
E19D (p.Glu19Asp) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- gnomAD 16-13920222-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 0.18
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available