G41V (p.Gly41Val) variant of XRCC2 (DNA repair protein XRCC2)
G41V (p.Gly41Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
G41V (p.Gly41Val) variant details
- p.Gly41Val
- rs1590129831
- ClinGen CA370199378
- ClinVar RCV001058507
- ClinVar RCV002365723
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- AlphaMissense 0.61
- MetaLR 0.70
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.69
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)