E13Q (p.Glu13Gln) variant of XRCC2 (DNA repair protein XRCC2)
E13Q (p.Glu13Gln) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
E13Q (p.Glu13Gln) variant details
- p.Glu13Gln
- rs1590140903
- ClinGen CA370199574
- ClinVar RCV000815635
- ClinVar RCV001021184
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- AlphaMissense 0.13
- MetaLR 0.08
- MetaSVM -1.02
- PolyPhen-2 0.01
- SIFT 1.00
- MutPred 0.30
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- 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)