R202I (p.Arg202Ile) variant of ACVR1 (Activin receptor type-1)
R202I (p.Arg202Ile) 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.
R202I (p.Arg202Ile) variant details
- p.Arg202Ile
- rs387906591
- ClinGen CA128484
- NCI-TCGA Cosmic COSV5512
- cosmic curated COSV55123
- Pathogenic
- Progressive myositis ossificans
- Missense
- ClinVar: Pathogenic (Progressive myositis ossificans)
- EBI: Pathogenic (in FOP)
- UniProt: Pathogenic (in FOP)
- Structural context available
- Cited in: Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. (PMID 19330033)
- Cited in: Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis. (PMID 21567927)