G296E (p.Gly296Glu) variant of ITGA2B (Integrin alpha-IIb)
G296E (p.Gly296Glu) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G296E (p.Gly296Glu) variant details
- p.Gly296Glu
- rs2048624107
- ClinGen CA399804950
- ClinVar RCV003606846
- TOPMed rs2048624107
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- AlphaMissense 0.96
- MetaLR 0.71
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available