D145N (p.Asp145Asn) variant of ITGB3 (Integrin beta-3)
D145N (p.Asp145Asn) 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 0.98 / 1. The record also includes published literature and structural context.
D145N (p.Asp145Asn) variant details
- p.Asp145Asn
- rs121918445
- ClinGen CA400021939
- ClinVar RCV000851787
- ClinVar RCV004798869
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT2)
- UniProt: Pathogenic (in GT2)
- Structural context available
- Cited in: Hematologically important mutations: Glanzmann thrombasthenia. (PMID 9215749)
- Cited in: Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. (PMID 10233432)