T207I (p.Thr207Ile) variant of ITGA2B (Integrin alpha-IIb)
T207I (p.Thr207Ile) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T207I (p.Thr207Ile) variant details
- p.Thr207Ile
- rs2143485911
- ClinGen CA399805570
- ClinVar RCV001803410
- UniProt VAR 030450
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.73
- MetaLR 0.55
- MetaSVM 0.21
- CADD 26.00
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT1)
- UniProt: Pathogenic (in GT1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Hematologically important mutations: Glanzmann thrombasthenia. (PMID 9215749)
- Cited in: A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to… (PMID 10607701)