C601R (p.Cys601Arg) variant of ITGB3 (Integrin beta-3)
C601R (p.Cys601Arg) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C601R (p.Cys601Arg) variant details
- p.Cys601Arg
- rs747534508
- ClinGen CA8623361
- ClinVar RCV001580240
- ClinVar RCV003558843
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT2)
- UniProt: Pathogenic (in GT2)
- Population evidence available
- Structural context available
- Cited in: Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. (PMID 12083483)
- Cited in: Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. (PMID 10233432)