G48S (p.Gly48Ser) variant of XRCC2 (DNA repair protein XRCC2)
G48S (p.Gly48Ser) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G48S (p.Gly48Ser) variant details
- p.Gly48Ser
- rs1590129815
- ClinGen CA370199334
- ClinVar RCV001011542
- Ensembl rs1590129815
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.90
- MetaLR 0.76
- MetaSVM 0.64
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.32
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)