R258S (p.Arg258Ser) variant of ACVR1 (Activin receptor type-1)
R258S (p.Arg258Ser) 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.
R258S (p.Arg258Ser) variant details
- p.Arg258Ser
- rs121912680
- ClinGen CA128038
- ClinVar RCV000019973
- ExAC rs121912680
- Pathogenic
- Progressive myositis ossificans
- Missense
- ClinVar: Pathogenic (Progressive myositis ossificans)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva… (PMID 18830232)
- Cited in: Fibrodysplasia Ossificans Progressiva. (PMID 32525643)