E42Q (p.Glu42Gln) variant of SETX (Helicase senataxin)

E42Q (p.Glu42Gln) in SETX (Helicase senataxin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E42Q (p.Glu42Gln) variant details