Y216H (p.Tyr216His) variant of ITGB3 (Integrin beta-3)
Y216H (p.Tyr216His) in ITGB3 (Integrin beta-3) 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.
Y216H (p.Tyr216His) variant details
- p.Tyr216His
- rs2547616779
- ClinGen CA400023428
- ClinVar RCV003234995
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available