Y59C (p.Tyr59Cys) variant of XRCC2 (DNA repair protein XRCC2)
Y59C (p.Tyr59Cys) 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 not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Y59C (p.Tyr59Cys) variant details
- p.Tyr59Cys
- rs1590129796
- ClinGen CA370199260
- ClinVar RCV001013087
- ClinVar RCV001860735
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.13
- AlphaMissense 0.13
- MetaLR 0.10
- MetaSVM -0.99
- CADD 24.00
- PolyPhen-2 0.12
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- 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)