E101* (p.Glu101Ter) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E101* (p.Glu101Ter) 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 0.73 / 1. The record also includes published literature and structural context.
E101* (p.Glu101Ter) variant details
- p.Glu101Ter
- rs121918671
- ExAC rs121918671
- gnomAD rs121918671
- ClinGen CA122599
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.73
- AlphaMissense 0.23
- MetaLR 0.94
- MetaSVM 0.98
- PolyPhen-2 0.69
- MutPred 0.84
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney… (PMID 11085914)
- Cited in: Familial hypoplastic glomerulocystic kidney. A new entity? (PMID 7151342)