L86P (p.Leu86Pro) variant of ITGA2B (Integrin alpha-IIb)
L86P (p.Leu86Pro) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L86P (p.Leu86Pro) variant details
- p.Leu86Pro
- rs1052533574
- ClinGen CA290956162
- ClinVar RCV001225273
- ClinVar RCV004782674
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.86
- MetaLR 0.74
- MetaSVM 0.59
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT1)
- UniProt: Pathogenic (in GT1)
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia. (PMID 12181054)
- Cited in: A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to… (PMID 10607701)