W238R (p.Trp238Arg) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
W238R (p.Trp238Arg) 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 Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
W238R (p.Trp238Arg) variant details
- p.Trp238Arg
- rs2033751993
- ClinGen CA398748552
- ClinVar RCV002367464
- ClinGen CA398748550
- Uncertain significance
- Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 0.84
- MutPred 0.55
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)