G11E (p.Gly11Glu) variant of RAD50 (DNA repair protein RAD50)
G11E (p.Gly11Glu) in RAD50 (DNA repair protein RAD50) 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.
G11E (p.Gly11Glu) variant details
- p.Gly11Glu
- rs1750019704
- ClinGen CA916082758
- ClinVar RCV001039902
- Ensembl rs1750019704
- 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)