C273S (p.Cys273Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
C273S (p.Cys273Ser) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
C273S (p.Cys273Ser) variant details
- p.Cys273Ser
- rs2511802356
- ClinGen CA398747109
- ClinVar RCV000787137
- Likely pathogenic
- Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 27.90
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Likely pathogenic (Renal cysts and diabetes syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)