Y141C (p.Tyr141Cys) variant of ITGB3 (Integrin beta-3)
Y141C (p.Tyr141Cys) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Y141C (p.Tyr141Cys) variant details
- p.Tyr141Cys
- rs1739770567
- ClinGen CA400021881
- ClinVar RCV002254817
- ClinVar RCV003560900
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- MetaLR 0.96
- MetaSVM 1.07
- CADD 29.30
- 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 0.00021)
- Structural context available
- Cited in: Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients. (PMID 15748237)
- Cited in: Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. (PMID 10233432)