M1I (p.Met1Ile) variant of MEN1 (Menin)
M1I (p.Met1Ile) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs786204242
- ClinGen CA009394
- ClinVar RCV000168423
- ClinVar RCV001556584
- Pathogenic/Likely pathogenic
- Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.91
- SIFT 0.01
- MutPred 0.77
- ClinVar: Pathogenic/Likely pathogenic (Multiple endocrine neoplasia, type 1; Hereditary cancer-predispo)
- EBI: Pathogenic
- UniProt: 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)