A47S (p.Ala47Ser) variant of SHANK1 (Q9Y566)

A47S (p.Ala47Ser) in SHANK1 (Q9Y566) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

A47S (p.Ala47Ser) variant details