T100A (p.Thr100Ala) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
T100A (p.Thr100Ala) 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 0.76 / 1. The record also includes structural context.
T100A (p.Thr100Ala) variant details
- p.Thr100Ala
- rs1568675935
- ClinGen CA398753195
- ClinVar RCV000729928
- TOPMed rs1568675935
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 0.26
- MetaLR 0.93
- MetaSVM 0.98
- PolyPhen-2 0.99
- MutPred 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available