A30L (p.Ala30Leu) variant of MRE11 (P49959)
A30L (p.Ala30Leu) 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.
A30L (p.Ala30Leu) variant details
- p.Ala30Leu
- rs1591726665
- ClinGen CA915948384
- ClinVar RCV001018368
- Ensembl rs1591726665
- 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)