P176L (p.Pro176Leu) variant of ITGA2B (Integrin alpha-IIb)
P176L (p.Pro176Leu) 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 0.80 / 1. The record also includes published literature and structural context.
P176L (p.Pro176Leu) variant details
- p.Pro176Leu
- rs148327798
- ClinGen CA399805789
- ClinVar RCV001225250
- UniProt VAR 009886
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.43
- MetaLR 0.88
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT1)
- UniProt: Pathogenic (in GT1)
- Structural context available
- Cited in: A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to… (PMID 10607701)
- Cited in: Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes. (PMID 11798398)