C705R (p.Cys705Arg) variant of ITGA2B (Integrin alpha-IIb)
C705R (p.Cys705Arg) in ITGA2B (Integrin alpha-IIb) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C705R (p.Cys705Arg) variant details
- p.Cys705Arg
- rs77961246
- ClinGen CA8602816
- ClinVar RCV001225296
- ClinVar RCV002254204
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.88
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT1)
- UniProt: Pathogenic (in GT1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. (PMID 12083483)
- Cited in: AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing… (PMID 20020534)