P50S (p.Pro50Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P50S (p.Pro50Ser) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- ExAC rs746036863
- TOPMed rs746036863
- gnomAD rs746036863
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available