E179K (p.Glu179Lys) variant of MEN1 (Menin)
E179K (p.Glu179Lys) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E179K (p.Glu179Lys) variant details
- p.Glu179Lys
- rs1064793167
- ClinGen CA16619365
- cosmic curated COSV53649
- ClinVar RCV000483982
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Multiple)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1). (PMID 11102994)
- Cited in: Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. (PMID 15714081)