L46P (p.Leu46Pro) variant of MRE11 (P49959)
L46P (p.Leu46Pro) 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.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- rs2496652549
- ClinGen CA382380620
- ClinVar RCV002461505
- 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)