Q38R (p.Gln38Arg) variant of ITGA2B (Integrin alpha-IIb)
Q38R (p.Gln38Arg) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q38R (p.Gln38Arg) variant details
- p.Gln38Arg
- TOPMed rs2048678620
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available