L125R (p.Leu125Arg) variant of SETX (Helicase senataxin)
L125R (p.Leu125Arg) in SETX (Helicase senataxin) is a missense change. The record also includes structural context.
L125R (p.Leu125Arg) variant details
- p.Leu125Arg
- TOPMed rs1326253334
- Missense
- Structural context available