E19* (p.Glu19Ter) variant of ERCC4 (DNA repair endonuclease XPF)
E19* (p.Glu19Ter) 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.
E19* (p.Glu19Ter) variant details
- p.Glu19Ter
- TOPMed rs1210853201
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.857
- CADD 45.00
- Population evidence available
- Structural context available