E94G (p.Glu94Gly) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E94G (p.Glu94Gly) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E94G (p.Glu94Gly) variant details
- p.Glu94Gly
- rs2511850235
- ClinGen CA398753320
- ClinVar RCV003312387
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 26.80
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available