A33V (p.Ala33Val) variant of XRCC2 (DNA repair protein XRCC2)
A33V (p.Ala33Val) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs1392976414
- ClinGen CA370199442
- ClinVar RCV004521394
- gnomAD rs1392976414
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.04
- MetaLR 0.13
- MetaSVM -1.00
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)