R165P (p.Arg165Pro) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R165P (p.Arg165Pro) 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 0.99 / 1. The record also includes published literature and structural context.
R165P (p.Arg165Pro) variant details
- p.Arg165Pro
- rs121918675
- ClinGen CA398751241
- ClinVar RCV000787192
- Likely pathogenic
- Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- MutPred 0.97
- ClinVar: Likely pathogenic (Renal cysts and diabetes syndrome)
- EBI: Likely pathogenic (in RCAD)
- UniProt: Likely pathogenic (in RCAD)
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)