Q198* (p.Gln198Ter) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
Q198* (p.Gln198Ter) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and published literature.
Q198* (p.Gln198Ter) variant details
- p.Gln198Ter
- gnomAD 20-22582665-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 40.00
- Population evidence available
- Literature evidence available