L92F (p.Leu92Phe) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
L92F (p.Leu92Phe) 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 0.83 / 1. The record also includes published literature and structural context.
L92F (p.Leu92Phe) variant details
- p.Leu92Phe
- rs2147598858
- ClinGen CA398753400
- ClinVar RCV000787236
- Likely pathogenic
- Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 0.50
- MetaLR 0.95
- MetaSVM 1.05
- PolyPhen-2 0.96
- MutPred 0.69
- ClinVar: Likely pathogenic (Renal cysts and diabetes syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)