C35* (p.Cys35Ter) variant of ERCC4 (DNA repair endonuclease XPF)
C35* (p.Cys35Ter) in ERCC4 (DNA repair endonuclease XPF) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C35* (p.Cys35Ter) variant details
- p.Cys35Ter
- ExAC rs762885804
- TOPMed rs762885804
- gnomAD rs762885804
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 36.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available