E45K (p.Glu45Lys) variant of MEN1 (Menin)
E45K (p.Glu45Lys) 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; 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.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs1114167491
- ClinGen CA381187857
- ClinVar RCV000491351
- ClinVar RCV000696687
- Pathogenic/Likely 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/Likely pathogenic (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1. (PMID 10664520)
- Cited in: Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients. (PMID 12746426)