R375P (p.Arg375Pro) variant of ACVR1 (Activin receptor type-1)
R375P (p.Arg375Pro) 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.
R375P (p.Arg375Pro) variant details
- p.Arg375Pro
- rs387906590
- ClinGen CA128483
- ClinVar RCV000022433
- UniProt VAR 058425
- 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: A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans… (PMID 16642017)