G57D (p.Gly57Asp) variant of FOXA1 (P55317)
G57D (p.Gly57Asp) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
G57D (p.Gly57Asp) variant details
- p.Gly57Asp
- Ensembl rs2139184063
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.20
- MetaLR 0.10
- MetaSVM -1.05
- CADD 25.70
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)