E47* (p.Glu47Ter) variant of PRKAA1 (Q13131)

E47* (p.Glu47Ter) in PRKAA1 (Q13131) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E47* (p.Glu47Ter) variant details