E94* (p.Glu94Ter) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E94* (p.Glu94Ter) in HNF1B (Hepatocyte nuclear factor 1-beta) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E94* (p.Glu94Ter) variant details
- p.Glu94Ter
- rs1405279061
- ClinGen CA398753336
- ClinVar RCV002776551
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.13
- PolyPhen-2 0.22
- MutPred 0.85
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)