E30G (p.Glu30Gly) variant of MEN1 (Menin)
E30G (p.Glu30Gly) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- rs1942017685
- ClinGen CA381188013
- ClinVar RCV001294396
- ClinVar RCV002375337
- Uncertain significance
- Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.10
- MetaLR 0.85
- MetaSVM 0.58
- PolyPhen-2 0.00
- SIFT 0.29
- EVE 0.17
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1; Hereditary cancer-predispo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)