S212C (p.Ser212Cys) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
S212C (p.Ser212Cys) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and published literature.
S212C (p.Ser212Cys) variant details
- p.Ser212Cys
- gnomAD 20-22582607-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.98
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available