R258G (p.Arg258Gly) variant of ACVR1 (Activin receptor type-1)
R258G (p.Arg258Gly) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Progressive myositis ossificans. The record also includes published literature and structural context.
R258G (p.Arg258Gly) variant details
- p.Arg258Gly
- rs863224846
- ClinGen CA278984
- cosmic curated COSV55116
- ClinVar RCV000198218
- Likely pathogenic
- Progressive myositis ossificans
- Missense
- ClinVar: Likely pathogenic (Progressive myositis ossificans)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Fibrodysplasia Ossificans Progressiva. (PMID 32525643)