E26K (p.Glu26Lys) variant of MEN1 (Menin)
E26K (p.Glu26Lys) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- rs28931612
- ClinGen CA009584
- cosmic curated COSV56343
- ClinVar RCV000018169
- Pathogenic/Likely pathogenic
- not provided; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.45
- ClinVar: Pathogenic/Likely pathogenic (not provided; Multiple endocrine neoplasia, type 1)
- EBI: Pathogenic (in parathyroid adenoma and MEN1)
- UniProt: Pathogenic (in parathyroid adenoma and MEN1)
- Structural context available
- Cited in: Somatic mutation of the MEN1 gene in parathyroid tumours. (PMID 9241276)
- Cited in: MEN1 gene mutations in 12 MEN1 families and their associated tumors. (PMID 9820618)