A139V (p.Ala139Val) variant of ITGA2B (Integrin alpha-IIb)
A139V (p.Ala139Val) 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 0.70 / 1. The record also includes published literature and structural context.
A139V (p.Ala139Val) variant details
- p.Ala139Val
- rs2143489510
- ClinGen CA399806036
- ClinVar RCV001580238
- UniProt VAR 030446
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- AlphaMissense 0.72
- MetaLR 0.66
- MetaSVM 0.51
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT1)
- UniProt: Pathogenic (in GT1)
- Structural context available
- Cited in: Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. (PMID 12083483)
- Cited in: A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to… (PMID 10607701)