F39L (p.Phe39Leu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
F39L (p.Phe39Leu) 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.
F39L (p.Phe39Leu) variant details
- p.Phe39Leu
- gnomAD rs1262317733
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 19.00
- PolyPhen-2 0.30
- SIFT 0.91
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available