D191D (p.Asp191Asp) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
D191D (p.Asp191Asp) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
D191D (p.Asp191Asp) variant details
- p.Asp191Asp
- rs1218985577
- gnomAD 20-22582651-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 11.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available