T100S (p.Thr100Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
T100S (p.Thr100Ser) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain risk allele in the context of Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
T100S (p.Thr100Ser) variant details
- p.Thr100Ser
- rs1568675935
- ClinGen CA398753191
- ClinVar RCV002465957
- TOPMed rs1568675935
- Uncertain risk allele
- Maturity-onset diabetes of the young
- 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 risk allele (Maturity-onset diabetes of the young)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)