R88* (p.Arg88Ter) variant of ERCC2 (P18074)
R88* (p.Arg88Ter) in ERCC2 (P18074) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R88* (p.Arg88Ter) variant details
- p.Arg88Ter
- rs748842373
- ClinGen CA9513844
- ClinVar RCV003236423
- ClinVar RCV003466048
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.874
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)