G72C (p.Gly72Cys) variant of FOXA1 (P55317)
G72C (p.Gly72Cys) in FOXA1 (P55317) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
G72C (p.Gly72Cys) variant details
- p.Gly72Cys
- ExAC rs755762174
- gnomAD rs755762174
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.33
- MetaLR 0.13
- MetaSVM -1.08
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 5.8e-05)