S318L (p.Ser318Leu) variant of ITGA2B (Integrin alpha-IIb)
S318L (p.Ser318Leu) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glanzmann thrombasthenia. The record also includes structural context.
S318L (p.Ser318Leu) variant details
- p.Ser318Leu
- rs2510082649
- ClinGen CA399804787
- ClinVar RCV002511519
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available