R17* (p.Arg17Ter) variant of XRCC2 (DNA repair protein XRCC2)
R17* (p.Arg17Ter) in XRCC2 (DNA repair protein XRCC2) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R17* (p.Arg17Ter) variant details
- p.Arg17Ter
- rs750903875
- ClinGen CA4582413
- NCI-TCGA Cosmic COSV6377
- ClinVar RCV000574813
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)