R295H (p.Arg295His) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R295H (p.Arg295His) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Nonpapillary renal cell carcinoma; Renal cysts and diabetes syndrome; Type 2 dia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R295H (p.Arg295His) variant details
- p.Arg295His
- rs886043813
- ClinGen CA10605981
- ClinVar RCV000713806
- ClinVar RCV000787122
- Conflicting interpretations
- Nonpapillary renal cell carcinoma; Renal cysts and diabetes syndrome; Type 2 dia
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 1.00
- MutPred 0.86
- ClinVar: Conflicting classifications of pathogenicity (Nonpapillary renal cell carcinoma; Renal cysts and diabetes synd)
- 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)