G267E (p.Gly267Glu) variant of ITGA2B (Integrin alpha-IIb)
G267E (p.Gly267Glu) in ITGA2B (Integrin alpha-IIb) 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 0.61 / 1. The record also includes published literature and structural context.
G267E (p.Gly267Glu) variant details
- p.Gly267Glu
- rs2048627164
- ClinGen CA399805147
- ClinVar RCV001225247
- UniProt VAR 030453
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.57
- MetaLR 0.52
- MetaSVM 0.28
- PolyPhen-2 0.81
- SIFT 0.00
- MutPred 0.66
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT1)
- UniProt: Pathogenic (in GT1)
- Structural context available
- Cited in: Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. (PMID 12083483)
- Cited in: A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to… (PMID 10607701)