L33F (p.Leu33Phe) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
L33F (p.Leu33Phe) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L33F (p.Leu33Phe) variant details
- p.Leu33Phe
- TOPMed rs2034122976
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 22.30
- PolyPhen-2 0.57
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available