I330N (p.Ile330Asn) variant of ITGB3 (Integrin beta-3)
I330N (p.Ile330Asn) in ITGB3 (Integrin beta-3) 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 0.95 / 1. The record also includes published literature and structural context.
I330N (p.Ile330Asn) variant details
- p.Ile330Asn
- rs2143105830
- ClinGen CA400025722
- ClinVar RCV002254794
- UniProt VAR 030483
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 0.93
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT2)
- UniProt: Pathogenic (in GT2)
- Structural context available
- Cited in: Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro… (PMID 15634267)
- Cited in: Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. (PMID 10233432)