P89L (p.Pro89Leu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P89L (p.Pro89Leu) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. 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.
P89L (p.Pro89Leu) variant details
- p.Pro89Leu
- ExAC rs779455046
- TOPMed rs779455046
- gnomAD rs779455046
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available