Q198R (p.Gln198Arg) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
Q198R (p.Gln198Arg) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
Q198R (p.Gln198Arg) variant details
- p.Gln198Arg
- gnomAD 20-22582664-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.81
- CADD 27.60
- PolyPhen-2 0.79
- SIFT 0.00
- Population evidence available
- Literature evidence available