L256V (p.Leu256Val) variant of MEN1 (Menin)
L256V (p.Leu256Val) 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 0.91 / 1. The record also includes published literature and structural context.
L256V (p.Leu256Val) variant details
- p.Leu256Val
- rs878855198
- ClinGen CA381184198
- ClinVar RCV003822259
- ClinVar RCV005377574
- Uncertain significance
- Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.72
- 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)