E55K (p.Glu55Lys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E55K (p.Glu55Lys) 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 HNF1B-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
E55K (p.Glu55Lys) variant details
- p.Glu55Lys
- rs747360527
- ExAC rs747360527
- TOPMed rs747360527
- gnomAD rs747360527
- Uncertain significance
- HNF1B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.53
- ClinVar: Uncertain significance (HNF1B-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available