P157H (p.Pro157His) variant of ITGA2B (Integrin alpha-IIb)
P157H (p.Pro157His) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glanzmann thrombasthenia. The record also includes structural context.
P157H (p.Pro157His) variant details
- p.Pro157His
- rs2510084880
- ClinGen CA399805912
- ClinVar RCV003222563
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available