R112P (p.Arg112Pro) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R112P (p.Arg112Pro) 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 0.61 / 1. The record also includes published literature and structural context.
R112P (p.Arg112Pro) variant details
- p.Arg112Pro
- rs953274911
- ClinGen CA398752937
- ClinVar RCV000787232
- UniProt VAR 046016
- Pathogenic
- Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- AlphaMissense 0.11
- MetaLR 0.84
- MetaSVM 0.54
- PolyPhen-2 0.10
- MutPred 0.59
- ClinVar: Pathogenic (Renal cysts and diabetes syndrome)
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Structural context available
- Cited in: Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. (PMID 15068978)
- Cited in: Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of… (PMID 16249435)