E42Q (p.Glu42Gln) variant of GJA5 (Gap junction alpha-5 protein)

E42Q (p.Glu42Gln) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

E42Q (p.Glu42Gln) variant details