A122T (p.Ala122Thr) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
A122T (p.Ala122Thr) 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 not provided; Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
A122T (p.Ala122Thr) variant details
- p.Ala122Thr
- rs1568670778
- Ensembl rs1568670778
- ClinGen CA398751718
- ClinVar RCV000731660
- Uncertain significance/Uncertain risk allele
- not provided; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- MutPred 0.85
- ClinVar: Uncertain significance/Uncertain risk allele (not provided; 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)