S148W (p.Ser148Trp) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S148W (p.Ser148Trp) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
S148W (p.Ser148Trp) variant details
- p.Ser148Trp
- rs121918674
- ClinGen CA122604
- ClinVar RCV000013480
- ClinVar RCV001551662
- Pathogenic
- not provided; Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- MutPred 0.96
- ClinVar: Pathogenic (not provided; Renal cysts and diabetes syndrome)
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Structural context available
- Cited in: Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a… (PMID 15181075)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)