S54* (p.Ser54Ter) variant of GATA2 (P23769)
S54* (p.Ser54Ter) in GATA2 (P23769) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S54* (p.Ser54Ter) variant details
- p.Ser54Ter
- rs2107673501
- ClinGen CA354408555
- ClinVar RCV001542131
- ClinVar RCV005055170
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available