E26* (p.Glu26Ter) variant of MEN1 (Menin)
E26* (p.Glu26Ter) in MEN1 (Menin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in parathyroid adenoma and MEN1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E26* (p.Glu26Ter) variant details
- p.Glu26Ter
- Ensembl rs28931612
- Pathogenic
- in parathyroid adenoma and MEN1
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.03
- EBI: Pathogenic (in parathyroid adenoma and MEN1)
- UniProt: Pathogenic (in parathyroid adenoma and MEN1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available