L123V (p.Leu123Val) variant of SETX (Helicase senataxin)

L123V (p.Leu123Val) 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.

L123V (p.Leu123Val) variant details