P32L (p.Pro32Leu) variant of MEN1 (Menin)
P32L (p.Pro32Leu) 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 0.93 / 1. The record also includes published literature and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs2136194414
- ClinGen CA381187989
- ClinVar RCV001930980
- ClinVar RCV002386734
- Uncertain significance
- Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.77
- 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)