E44Q (p.Glu44Gln) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E44Q (p.Glu44Gln) 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 0.84 / 1. The record also includes structural context.
E44Q (p.Glu44Gln) variant details
- p.Glu44Gln
- rs1362125211
- ClinGen CA398754349
- ClinVar RCV002297895
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.57
- MetaLR 0.92
- MetaSVM 0.94
- PolyPhen-2 0.89
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available