I125T (p.Ile125Thr) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
I125T (p.Ile125Thr) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
I125T (p.Ile125Thr) variant details
- p.Ile125Thr
- rs2147575564
- ClinGen CA398751691
- ClinVar RCV000787221
- Pathogenic
- Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- MutPred 0.85
- ClinVar: Pathogenic (Renal cysts and diabetes syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)