S183T (p.Ser183Thr) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
S183T (p.Ser183Thr) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and published literature.
S183T (p.Ser183Thr) variant details
- p.Ser183Thr
- gnomAD 20-22582676-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.63
- CADD 23.50
- PolyPhen-2 0.17
- SIFT 0.01
- Population evidence available
- Literature evidence available