S49A (p.Ser49Ala) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S49A (p.Ser49Ala) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S49A (p.Ser49Ala) variant details
- p.Ser49Ala
- ExAC rs775376615
- TOPMed rs775376615
- gnomAD rs775376615
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 22.70
- PolyPhen-2 0.17
- SIFT 0.27
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available