E25* (p.Glu25Ter) variant of SHANK1 (Q9Y566)

E25* (p.Glu25Ter) in SHANK1 (Q9Y566) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E25* (p.Glu25Ter) variant details