L48P (p.Leu48Pro) variant of MEN1 (Menin)
L48P (p.Leu48Pro) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.87 / 1. The record also includes published literature and structural context.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- rs1592660057
- ClinGen CA381187811
- ClinVar RCV001011589
- ClinVar RCV001860673
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.01
- SIFT 0.00
- EVE 0.77
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)