E179D (p.Glu179Asp) variant of MEN1 (Menin)
E179D (p.Glu179Asp) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
E179D (p.Glu179Asp) variant details
- p.Glu179Asp
- rs1555165811
- ClinGen CA381185887
- ClinVar RCV000523027
- UniProt VAR 005443
- Conflicting interpretations
- not provided; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.79
- ClinVar: Conflicting classifications of pathogenicity (not provided; Multiple endocrine neoplasia, type 1)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. (PMID 15714081)
- Cited in: Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases. (PMID 9888389)