R252W (p.Arg252Trp) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R252W (p.Arg252Trp) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma; Renal cysts and dia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R252W (p.Arg252Trp) variant details
- p.Arg252Trp
- rs748416956
- ExAC rs748416956
- TOPMed rs748416956
- gnomAD rs748416956
- Uncertain significance
- Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma; Renal cysts and dia
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.82
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 1.00
- MutPred 0.44
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma; Ren)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)