R20* (p.Arg20Ter) variant of ERCC4 (DNA repair endonuclease XPF)
R20* (p.Arg20Ter) in ERCC4 (DNA repair endonuclease XPF) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R20* (p.Arg20Ter) variant details
- p.Arg20Ter
- rs1355878901
- ClinGen CA394816007
- ClinVar RCV002037756
- TOPMed rs1355878901
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)