G51R (p.Gly51Arg) variant of XRCC2 (DNA repair protein XRCC2)
G51R (p.Gly51Arg) 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 0.57 / 1. The record also includes published literature and structural context.
G51R (p.Gly51Arg) variant details
- p.Gly51Arg
- rs2116988454
- ClinGen CA370199315
- ClinVar RCV002392396
- Ensembl rs2116988454
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- AlphaMissense 0.87
- MetaLR 0.49
- MetaSVM -0.23
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- 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)