W89* (p.Trp89Ter) variant of ITGA2B (Integrin alpha-IIb)
W89* (p.Trp89Ter) in ITGA2B (Integrin alpha-IIb) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W89* (p.Trp89Ter) variant details
- p.Trp89Ter
- rs2048646082
- ClinGen CA399806384
- ClinVar RCV001290479
- ClinVar RCV002254212
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available