S212T (p.Ser212Thr) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
S212T (p.Ser212Thr) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
S212T (p.Ser212Thr) variant details
- p.Ser212Thr
- gnomAD 20-22582608-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.92
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available