Q40* (p.Gln40Ter) variant of ITGB3 (Integrin beta-3)
Q40* (p.Gln40Ter) in ITGB3 (Integrin beta-3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- rs2547613559
- ClinGen CA400031679
- ClinVar RCV002511542
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available