Q139* (p.Gln139Ter) variant of STAT5B (P51692)
Q139* (p.Gln139Ter) in STAT5B (P51692) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q139* (p.Gln139Ter) variant details
- p.Gln139Ter
- rs2508776887
- ClinGen CA399589518
- ClinVar RCV002811147
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available