E105K (p.Glu105Lys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E105K (p.Glu105Lys) 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 specified; not provided; Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E105K (p.Glu105Lys) variant details
- p.Glu105Lys
- rs199572129
- 1000Genomes rs199572129
- ExAC rs199572129
- TOPMed rs199572129
- Conflicting interpretations
- not specified; not provided; Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Renal cysts and diabetes syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available