L214P (p.Leu214Pro) variant of ITGA2B (Integrin alpha-IIb)
L214P (p.Leu214Pro) in ITGA2B (Integrin alpha-IIb) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L214P (p.Leu214Pro) variant details
- p.Leu214Pro
- rs137852911
- ClinGen CA115848
- ClinVar RCV000003035
- ClinVar RCV001580159
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.80
- MetaLR 0.65
- MetaSVM 0.53
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT1)
- UniProt: Pathogenic (in GT1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative… (PMID 9473221)
- Cited in: A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to… (PMID 10607701)