D243V (p.Asp243Val) variant of ITGB3 (Integrin beta-3)
D243V (p.Asp243Val) 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 0.97 / 1. The record also includes published literature and structural context.
D243V (p.Asp243Val) variant details
- p.Asp243Val
- rs2143097053
- ClinGen CA400023604
- ClinVar RCV001580220
- UniProt VAR 030480
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT2)
- UniProt: Pathogenic (in GT2)
- Structural context available
- Cited in: Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. (PMID 12083483)
- Cited in: Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. (PMID 10233432)