G51E (p.Gly51Glu) variant of XRCC2 (DNA repair protein XRCC2)
G51E (p.Gly51Glu) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G51E (p.Gly51Glu) variant details
- p.Gly51Glu
- rs1590129803
- ClinGen CA370199312
- ClinVar RCV000815479
- ClinVar RCV002397693
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.74
- MetaLR 0.69
- MetaSVM 0.42
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; 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)