E44* (p.Glu44Ter) variant of GATA2 (P23769)
E44* (p.Glu44Ter) in GATA2 (P23769) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E44* (p.Glu44Ter) variant details
- p.Glu44Ter
- rs2107673544
- ClinGen CA354408751
- ClinVar RCV001542130
- ClinVar RCV004591547
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available