S212P (p.Ser212Pro) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
S212P (p.Ser212Pro) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and published literature.
S212P (p.Ser212Pro) variant details
- p.Ser212Pro
- rs774841083
- gnomAD 20-22582608-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.96
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available