S148L (p.Ser148Leu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S148L (p.Ser148Leu) 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 Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S148L (p.Ser148Leu) variant details
- p.Ser148Leu
- rs121918674
- ClinGen CA398751429
- ClinVar RCV001281300
- ClinVar RCV001328307
- Pathogenic/Likely pathogenic
- Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.09
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Non)
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Population evidence available
- Structural context available
- Cited in: Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. (PMID 15930087)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)