G328W (p.Gly328Trp) variant of ACVR1 (Activin receptor type-1)
G328W (p.Gly328Trp) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Progressive myositis ossificans. The record also includes published literature and structural context.
G328W (p.Gly328Trp) variant details
- p.Gly328Trp
- rs387906588
- ClinGen CA128481
- cosmic curated COSV55118
- ClinVar RCV000022431
- Pathogenic
- Progressive myositis ossificans
- Missense
- ClinVar: Pathogenic (Progressive myositis ossificans)
- EBI: Pathogenic (in FOP)
- UniProt: Pathogenic (in FOP)
- Structural context available
- Cited in: Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone… (PMID 19085907)
- Cited in: Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. (PMID 7068725)