G3A (p.Gly3Ala) variant of FOXA1 (P55317)
G3A (p.Gly3Ala) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
G3A (p.Gly3Ala) variant details
- p.Gly3Ala
- TOPMed rs1406059545
- gnomAD rs1406059545
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.31
- MetaLR 0.67
- MetaSVM 0.07
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)