S36F (p.Ser36Phe) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S36F (p.Ser36Phe) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S36F (p.Ser36Phe) variant details
- p.Ser36Phe
- rs544890850
- ClinGen CA8519156
- ClinVar RCV000787256
- ClinVar RCV001248883
- Conflicting interpretations
- Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 24.10
- PolyPhen-2 0.45
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Non)
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available
- Cited in: Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY. (PMID 11845238)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)