L196P (p.Leu196Pro) variant of ACVR1 (Activin receptor type-1)
L196P (p.Leu196Pro) 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.
L196P (p.Leu196Pro) variant details
- p.Leu196Pro
- rs797045135
- ClinGen CA204950
- ClinVar RCV000190876
- Ensembl rs797045135
- Pathogenic
- Progressive myositis ossificans
- Missense
- ClinVar: Pathogenic (Progressive myositis ossificans)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans… (PMID 21044902)
- Cited in: A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates… (PMID 21377447)