Y59S (p.Tyr59Ser) variant of XRCC2 (DNA repair protein XRCC2)
Y59S (p.Tyr59Ser) 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 0.32 / 1. The record also includes published literature and structural context.
Y59S (p.Tyr59Ser) variant details
- p.Tyr59Ser
- rs1590129796
- ClinGen CA370199259
- ClinVar RCV003176559
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.13
- MetaLR 0.10
- MetaSVM -0.99
- PolyPhen-2 0.12
- SIFT 0.08
- EVE 0.30
- 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)