M278I (p.Met278Ile) variant of MEN1 (Menin)
M278I (p.Met278Ile) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.90 / 1. The record also includes published literature and structural context.
M278I (p.Met278Ile) variant details
- p.Met278Ile
- rs794728626
- ClinGen CA009640
- ClinVar RCV000491119
- ClinVar RCV006461815
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.77
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (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)