D57E (p.Asp57Glu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
D57E (p.Asp57Glu) 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 0.37 / 1. The record also includes population frequency data and structural context.
D57E (p.Asp57Glu) variant details
- p.Asp57Glu
- TOPMed rs1242784159
- gnomAD rs1242784159
- Uncertain significance
- Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 17.90
- PolyPhen-2 0.25
- SIFT 0.20
- 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 Latino/Admixed American population (allele frequency 0.00059)
- Structural context available