E105D (p.Glu105Asp) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E105D (p.Glu105Asp) 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.
E105D (p.Glu105Asp) variant details
- p.Glu105Asp
- gnomAD rs1347858100
- Uncertain significance
- Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.27
- 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 South Asian population (allele frequency 3.5e-05)
- Structural context available