L114S (p.Leu114Ser) variant of SETX (Helicase senataxin)

L114S (p.Leu114Ser) in SETX (Helicase senataxin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

L114S (p.Leu114Ser) variant details