R165C (p.Arg165Cys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R165C (p.Arg165Cys) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of HNF1B-related disorder; not provided; Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R165C (p.Arg165Cys) variant details
- p.Arg165Cys
- rs2511828535
- ClinGen CA398751247
- ClinVar RCV000787194
- ClinVar RCV003411729
- Pathogenic/Likely pathogenic
- HNF1B-related disorder; not provided; Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (HNF1B-related disorder; not provided; Renal cysts and diabetes s)
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)