R7G (p.Arg7Gly) variant of XRCC2 (DNA repair protein XRCC2)
R7G (p.Arg7Gly) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- rs1337184659
- ClinGen CA370199613
- ClinVar RCV003377782
- gnomAD rs1337184659
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- AlphaMissense 0.14
- MetaLR 0.11
- MetaSVM -1.04
- PolyPhen-2 0.05
- SIFT 0.05
- MutPred 0.31
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)