G454D (p.Gly454Asp) variant of ITGA2B (Integrin alpha-IIb)
G454D (p.Gly454Asp) 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 0.80 / 1. The record also includes population frequency data and structural context.
G454D (p.Gly454Asp) variant details
- p.Gly454Asp
- rs2048591163
- ClinGen CA399803524
- ClinVar RCV001254664
- TOPMed rs2048591163
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.81
- CADD 27.20
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available