R240Q (p.Arg240Gln) variant of ITGB3 (Integrin beta-3)
R240Q (p.Arg240Gln) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R240Q (p.Arg240Gln) variant details
- p.Arg240Gln
- rs121918444
- ClinGen CA123224
- cosmic curated COSV71384
- ClinVar RCV000014512
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- MetaLR 0.95
- MetaSVM 1.05
- CADD 26.50
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT2)
- UniProt: Pathogenic (in GT2)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site. (PMID 1371279)
- Cited in: Molecular characterization of Glanzmann's thrombasthenia in Iran: identification of three novel mutations. (PMID 29084015)