S19F (p.Ser19Phe) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S19F (p.Ser19Phe) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S19F (p.Ser19Phe) variant details
- p.Ser19Phe
- ExAC rs775848522
- TOPMed rs775848522
- gnomAD rs775848522
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available