D396N (p.Asp396Asn) variant of ITGA2B (Integrin alpha-IIb)
D396N (p.Asp396Asn) 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 0.84 / 1. The record also includes population frequency data and structural context.
D396N (p.Asp396Asn) variant details
- p.Asp396Asn
- rs1214448436
- ClinGen CA399804315
- ClinVar RCV000852005
- TOPMed rs1214448436
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.87
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available