C547W (p.Cys547Trp) variant of ITGB3 (Integrin beta-3)
C547W (p.Cys547Trp) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
C547W (p.Cys547Trp) variant details
- p.Cys547Trp
- rs185135224
- ClinGen CA400030171
- ClinVar RCV002254811
- 1000Genomes rs185135224
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- CADD 17.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available