E2* (p.Glu2Ter) variant of ERCC4 (DNA repair endonuclease XPF)
E2* (p.Glu2Ter) in ERCC4 (DNA repair endonuclease XPF) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- gnomAD 16-13920169-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 39.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available