E17* (p.Glu17Ter) variant of ERCC4 (DNA repair endonuclease XPF)
E17* (p.Glu17Ter) in ERCC4 (DNA repair endonuclease XPF) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- cosmic curated COSV61313
- ESP rs368281878
- TOPMed rs368281878
- gnomAD rs368281878
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.857
- CADD 44.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available