R295P (p.Arg295Pro) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R295P (p.Arg295Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R295P (p.Arg295Pro) variant details
- p.Arg295Pro
- rs886043813
- ClinGen CA398746848
- ClinVar RCV000991307
- ClinVar RCV003156290
- Likely pathogenic
- Renal cysts and diabetes syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 1.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Renal cysts and diabetes syndrome; not provided)
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Structural context available
- Cited in: Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. (PMID 15930087)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)