G57C (p.Gly57Cys) variant of FOXA1 (P55317)
G57C (p.Gly57Cys) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
G57C (p.Gly57Cys) variant details
- p.Gly57Cys
- ExAC rs769942089
- TOPMed rs769942089
- gnomAD rs769942089
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.23
- MetaLR 0.08
- MetaSVM -1.12
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)