D77E (p.Asp77Glu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
D77E (p.Asp77Glu) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D77E (p.Asp77Glu) variant details
- p.Asp77Glu
- rs760448993
- TOPMed rs760448993
- gnomAD rs760448993
- ClinGen CA290293155
- Conflicting interpretations
- not provided; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (not provided; Type 2 diabetes mellitus; Nonpapillary renal cell)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)