D28E (p.Asp28Glu) variant of ERCC4 (DNA repair endonuclease XPF)
D28E (p.Asp28Glu) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D28E (p.Asp28Glu) variant details
- p.Asp28Glu
- Ensembl rs2031941694
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.12
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available