I189V (p.Ile189Val) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
I189V (p.Ile189Val) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and published literature.
I189V (p.Ile189Val) variant details
- p.Ile189Val
- gnomAD 20-22582671-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.80
- CADD 24.00
- PolyPhen-2 0.09
- SIFT 0.00
- Population evidence available
- Literature evidence available