Y216C (p.Tyr216Cys) variant of ITGB3 (Integrin beta-3)
Y216C (p.Tyr216Cys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
Y216C (p.Tyr216Cys) variant details
- p.Tyr216Cys
- rs2065102310
- ClinGen CA400023432
- ClinVar RCV001290496
- ClinVar RCV002222694
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.97
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available