L143W (p.Leu143Trp) variant of ITGB3 (Integrin beta-3)
L143W (p.Leu143Trp) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
L143W (p.Leu143Trp) variant details
- p.Leu143Trp
- rs121918452
- ClinGen CA123252
- ClinVar RCV000014535
- ClinVar RCV001580250
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT2)
- UniProt: Pathogenic (in GT2)
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and… (PMID 16463284)
- Cited in: A Leu117-->Trp mutation within the RGD-peptide cross-linking region of beta3 results in Glanzmann thrombasthenia by… (PMID 9376589)