C568Y (p.Cys568Tyr) variant of ITGB3 (Integrin beta-3)
C568Y (p.Cys568Tyr) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glanzmann thrombasthenia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
C568Y (p.Cys568Tyr) variant details
- p.Cys568Tyr
- rs2143129695
- ClinGen CA400032353
- ClinVar RCV002250849
- Ensembl rs2143129695
- Uncertain significance
- Glanzmann thrombasthenia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glanzmann thrombasthenia 2)
- EBI: Variant of uncertain significance (in GT2)
- UniProt: Uncertain significance (in GT2)
- Population evidence available
- Structural context available