Q42* (p.Gln42Ter) variant of STAT2 (P52630)
Q42* (p.Gln42Ter) in STAT2 (P52630) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q42* (p.Gln42Ter) variant details
- p.Gln42Ter
- rs1258502384
- ClinGen CA385264076
- ClinVar RCV001993355
- TOPMed rs1258502384
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available