G53W (p.Gly53Trp) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G53W (p.Gly53Trp) 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 Renal cysts and diabetes syndrome; Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
G53W (p.Gly53Trp) variant details
- p.Gly53Trp
- rs2034119580
- Ensembl rs2034119580
- ClinGen CA398754211
- ClinVar RCV001258209
- Uncertain significance
- Renal cysts and diabetes syndrome; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.28
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- MutPred 0.54
- ClinVar: Uncertain significance (Renal cysts and diabetes syndrome; Maturity-onset diabetes of th)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)