E2K (p.Glu2Lys) variant of ERCC4 (DNA repair endonuclease XPF)
E2K (p.Glu2Lys) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- rs373789508
- cosmic curated COSV61312
- ESP rs373789508
- TOPMed rs373789508
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.10
- AlphaMissense 0.14
- MetaLR 0.12
- MetaSVM -0.97
- CADD 23.40
- PolyPhen-2 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available