T88A (p.Thr88Ala) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
T88A (p.Thr88Ala) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance/uncertain risk allele in the context of Monogenic diabetes; Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
T88A (p.Thr88Ala) variant details
- p.Thr88Ala
- rs1555833051
- Ensembl rs1555833051
- ClinGen CA398753475
- ClinVar RCV000664147
- Uncertain significance/Uncertain risk allele
- Monogenic diabetes; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- AlphaMissense 0.24
- MetaLR 0.90
- MetaSVM 0.78
- PolyPhen-2 0.66
- MutPred 0.63
- ClinVar: Uncertain significance/Uncertain risk allele (Monogenic diabetes; 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)