D36E (p.Asp36Glu) variant of XRCC2 (DNA repair protein XRCC2)
D36E (p.Asp36Glu) 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 record also includes published literature and structural context.
D36E (p.Asp36Glu) variant details
- p.Asp36Glu
- rs1590134276
- ClinGen CA370199418
- ClinVar RCV004521349
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)