G53A (p.Gly53Ala) variant of XRCC2 (DNA repair protein XRCC2)
G53A (p.Gly53Ala) 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.
G53A (p.Gly53Ala) variant details
- p.Gly53Ala
- rs1163807963
- ClinGen CA16622036
- ClinVar RCV002398405
- gnomAD rs1163807963
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.94
- AlphaMissense 0.65
- MetaLR 0.94
- MetaSVM 1.08
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)