D145Y (p.Asp145Tyr) variant of ITGB3 (Integrin beta-3)
D145Y (p.Asp145Tyr) in ITGB3 (Integrin beta-3) 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 0.98 / 1. The record also includes population frequency data, published literature, and structural context.
D145Y (p.Asp145Tyr) variant details
- p.Asp145Tyr
- rs121918445
- ClinGen CA123226
- ClinVar RCV000014513
- ClinVar RCV001374370
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT2)
- UniProt: Pathogenic (in GT2)
- Population evidence available
- Structural context available
- Cited in: A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation. (PMID 2392682)
- Cited in: Divalent cation regulation of the surface orientation of platelet membrane glycoprotein IIb. Correlation with… (PMID 2428841)