Y174H (p.Tyr174His) variant of ITGA2B (Integrin alpha-IIb)
Y174H (p.Tyr174His) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Y174H (p.Tyr174His) variant details
- p.Tyr174His
- rs2048640612
- ClinGen CA399805805
- ClinVar RCV003222576
- UniProt VAR 030448
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.81
- MetaLR 0.74
- MetaSVM 0.58
- CADD 26.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT1)
- UniProt: Pathogenic (in GT1)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: A naturally occurring Tyr143His alpha IIb mutation abolishes alpha IIb beta 3 function for soluble ligands but retains… (PMID 12506038)
- Cited in: A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to… (PMID 10607701)