L10R (p.Leu10Arg) variant of MEN1 (Menin)
L10R (p.Leu10Arg) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
L10R (p.Leu10Arg) variant details
- p.Leu10Arg
- rs1942026011
- ClinGen CA381188249
- ClinVar RCV001227378
- ClinVar RCV003294087
- Uncertain significance
- Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- AlphaMissense 0.22
- MetaLR 0.96
- MetaSVM 1.18
- PolyPhen-2 0.81
- SIFT 0.01
- EVE 0.25
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1; Hereditary cancer-predispo)
- 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)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)