I189L (p.Ile189Leu) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
I189L (p.Ile189Leu) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
I189L (p.Ile189Leu) variant details
- p.Ile189Leu
- gnomAD 20-22582671-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.88
- CADD 27.50
- PolyPhen-2 0.47
- SIFT 0.04
- Population evidence available
- Literature evidence available