E2A (p.Glu2Ala) variant of ERCC4 (DNA repair endonuclease XPF)
E2A (p.Glu2Ala) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- TOPMed rs2031937419
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.09
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available