L74* (p.Leu74Ter) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
L74* (p.Leu74Ter) 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 0.80 / 1. The record also includes published literature and structural context.
L74* (p.Leu74Ter) variant details
- p.Leu74Ter
- rs193922486
- TOPMed rs193922486
- ClinGen CA214355
- ClinVar RCV000030526
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 0.38
- MetaLR 0.95
- MetaSVM 1.05
- PolyPhen-2 0.96
- MutPred 0.60
- 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)