H48N (p.His48Asn) variant of SETX (Helicase senataxin)

H48N (p.His48Asn) 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.

H48N (p.His48Asn) variant details