D749H (p.Asp749His) variant of ITGB3 (Integrin beta-3)
D749H (p.Asp749His) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bleeding disorder, platelet-type, 24. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
D749H (p.Asp749His) variant details
- p.Asp749His
- rs398122372
- ClinGen CA143709
- ClinVar RCV000043480
- UniProt VAR 069924
- Pathogenic
- Bleeding disorder, platelet-type, 24
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Bleeding disorder, platelet-type, 24)
- EBI: Pathogenic (in BDPLT24)
- UniProt: Pathogenic (in BDPLT24)
- Structural context available
- Cited in: A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the… (PMID 18065693)
- Cited in: A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant… (PMID 29380037)