R69* (p.Arg69Ter) variant of ERCC5 (P28715)
R69* (p.Arg69Ter) in ERCC5 (P28715) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R69* (p.Arg69Ter) variant details
- p.Arg69Ter
- rs1882232971
- ClinGen CA388566955
- NCI-TCGA Cosmic COSV6324
- cosmic curated COSV63247
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.7
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)