E53Q (p.Glu53Gln) variant of ATP6V1A (P38606)

E53Q (p.Glu53Gln) in ATP6V1A (P38606) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E53Q (p.Glu53Gln) variant details