M278R (p.Met278Arg) variant of MEN1 (Menin)
M278R (p.Met278Arg) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
M278R (p.Met278Arg) variant details
- p.Met278Arg
- rs1592646765
- ClinGen CA381183750
- ClinVar RCV000810806
- ClinVar RCV004028709
- Likely pathogenic
- not provided; Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposi
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.89
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (not provided; Multiple endocrine neoplasia, type 1; Hereditary c)
- 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)