A94V (p.Ala94Val) variant of SHANK1 (Q9Y566)

A94V (p.Ala94Val) in SHANK1 (Q9Y566) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.

A94V (p.Ala94Val) variant details