I189F (p.Ile189Phe) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
I189F (p.Ile189Phe) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and published literature.
I189F (p.Ile189Phe) variant details
- p.Ile189Phe
- rs1984619322
- gnomAD 20-22582659-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.96
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Literature evidence available