S212S (p.Ser212Ser) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
S212S (p.Ser212Ser) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and published literature.
S212S (p.Ser212Ser) variant details
- p.Ser212Ser
- gnomAD 20-22582594-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.152
- CADD 10.10
- Population evidence available
- Literature evidence available