E78* (p.Glu78Ter) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E78* (p.Glu78Ter) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E78* (p.Glu78Ter) variant details
- p.Glu78Ter
- rs2511850923
- ClinGen CA398753654
- ClinVar RCV000787244
- ClinVar RCV001029833
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.866
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)