E184E (p.Glu184Glu) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
E184E (p.Glu184Glu) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
E184E (p.Glu184Glu) variant details
- p.Glu184Glu
- rs759791855
- gnomAD 20-22582672-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 12.30
- Most common in the South Asian population (allele frequency 5.8e-05)
- Literature evidence available