E49K (p.Glu49Lys) variant of MRE11 (P49959)
E49K (p.Glu49Lys) in MRE11 (P49959) 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.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- rs2496652386
- ClinGen CA382380589
- ClinVar RCV003176279
- 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)