R8* (p.Arg8Ter) variant of ERCC4 (DNA repair endonuclease XPF)
R8* (p.Arg8Ter) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R8* (p.Arg8Ter) variant details
- p.Arg8Ter
- rs774510191
- ClinGen CA394815859
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)