E25* (p.Glu25Ter) variant of ERCC4 (DNA repair endonuclease XPF)
E25* (p.Glu25Ter) in ERCC4 (DNA repair endonuclease XPF) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
E25* (p.Glu25Ter) variant details
- p.Glu25Ter
- 1000Genomes rs560047653
- ExAC rs560047653
- gnomAD rs560047653
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.833
- CADD 42.00
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available