G76C (p.Gly76Cys) variant of FOXA1 (P55317)
G76C (p.Gly76Cys) in FOXA1 (P55317) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
G76C (p.Gly76Cys) variant details
- p.Gly76Cys
- ESP rs368989227
- ExAC rs368989227
- TOPMed rs368989227
- gnomAD rs368989227
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.24
- MetaLR 0.16
- MetaSVM -0.82
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)