E32* (p.Glu32Ter) variant of FLG (Filaggrin)
E32* (p.Glu32Ter) in FLG (Filaggrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data.
E32* (p.Glu32Ter) variant details
- p.Glu32Ter
- rs114733570
- ClinGen CA1108108
- ClinVar RCV000300225
- ClinVar RCV000709724
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available