E45Q (p.Glu45Gln) variant of MEN1 (Menin)
E45Q (p.Glu45Gln) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.87 / 1. The record also includes published literature and structural context.
E45Q (p.Glu45Gln) variant details
- p.Glu45Gln
- rs1114167491
- ClinGen CA381187859
- ClinVar RCV003058327
- ClinVar RCV005675106
- Pathogenic
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.01
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- 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)