R240W (p.Arg240Trp) variant of ITGB3 (Integrin beta-3)
R240W (p.Arg240Trp) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R240W (p.Arg240Trp) variant details
- p.Arg240Trp
- rs121918446
- ClinGen CA123228
- ClinVar RCV000014514
- ClinVar RCV001580253
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- MetaLR 0.94
- MetaSVM 1.04
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT2)
- UniProt: Pathogenic (in GT2)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa… (PMID 1602006)
- Cited in: Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. (PMID 10233432)