L27M (p.Leu27Met) variant of MEN1 (Menin)
L27M (p.Leu27Met) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L27M (p.Leu27Met) variant details
- p.Leu27Met
- rs1006536599
- ClinGen CA381188048
- ClinVar RCV004522732
- ClinVar RCV006564889
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.80
- AlphaMissense 0.43
- MetaLR 0.98
- MetaSVM 1.07
- CADD 25.50
- PolyPhen-2 0.66
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)