R165H (p.Arg165His) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R165H (p.Arg165His) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Nonpapillary renal cell carcinoma; Type 2 diabetes mellitus; Renal cysts and dia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
R165H (p.Arg165His) variant details
- p.Arg165His
- rs121918675
- ClinGen CA122605
- ClinVar RCV000013482
- ClinVar RCV001659694
- Pathogenic/Likely pathogenic
- Nonpapillary renal cell carcinoma; Type 2 diabetes mellitus; Renal cysts and dia
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- MutPred 0.97
- ClinVar: Pathogenic/Likely pathogenic (Nonpapillary renal cell carcinoma; Type 2 diabetes mellitus; Ren)
- 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: Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. (PMID 15649945)