E94K (p.Glu94Lys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E94K (p.Glu94Lys) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
E94K (p.Glu94Lys) variant details
- p.Glu94Lys
- TOPMed rs1405279061
- gnomAD rs1405279061
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.13
- CADD 25.70
- PolyPhen-2 0.22
- SIFT 0.01
- Population evidence available
- Structural context available