G72S (p.Gly72Ser) variant of FOXA1 (P55317)
G72S (p.Gly72Ser) 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.
G72S (p.Gly72Ser) variant details
- p.Gly72Ser
- ExAC rs755762174
- gnomAD rs755762174
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.22
- MetaLR 0.09
- MetaSVM -1.05
- CADD 24.00
- PolyPhen-2 0.96
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)