P50A (p.Pro50Ala) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P50A (p.Pro50Ala) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P50A (p.Pro50Ala) variant details
- p.Pro50Ala
- ExAC rs746036863
- TOPMed rs746036863
- gnomAD rs746036863
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available