Q52* (p.Gln52Ter) variant of ACVR1 (Activin receptor type-1)

Q52* (p.Gln52Ter) in ACVR1 (Activin receptor type-1) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

Q52* (p.Gln52Ter) variant details