E2E (p.Glu2Glu) variant of ERCC4 (DNA repair endonuclease XPF)
E2E (p.Glu2Glu) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- rs749985757
- gnomAD 16-13920171-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 9.37
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available