E9Q (p.Glu9Gln) variant of XRCC2 (DNA repair protein XRCC2)
E9Q (p.Glu9Gln) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- rs1227610646
- ClinGen CA370199600
- ClinVar RCV002426235
- TOPMed rs1227610646
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.18
- MetaLR 0.29
- MetaSVM -0.50
- CADD 27.20
- PolyPhen-2 0.75
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)