G57S (p.Gly57Ser) variant of FOXA1 (P55317)
G57S (p.Gly57Ser) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- ExAC rs769942089
- TOPMed rs769942089
- gnomAD rs769942089
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.11
- CADD 23.80
- PolyPhen-2 0.58
- SIFT 0.13
- Most common in the East Asian population (allele frequency 2.5e-05)