W171R (p.Trp171Arg) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
W171R (p.Trp171Arg) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
W171R (p.Trp171Arg) variant details
- p.Trp171Arg
- rs193922490
- ClinGen CA214361
- ClinVar RCV000030531
- Ensembl rs193922490
- Likely pathogenic
- Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- MutPred 0.87
- ClinVar: Likely pathogenic (Renal cysts and diabetes syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)