F39Y (p.Phe39Tyr) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
F39Y (p.Phe39Tyr) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
F39Y (p.Phe39Tyr) variant details
- p.Phe39Tyr
- ESP rs373847943
- ExAC rs373847943
- TOPMed rs373847943
- gnomAD rs373847943
- Uncertain significance
- Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 21.90
- ClinVar: Uncertain significance (Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Non)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available