H48Y (p.His48Tyr) variant of SETX (Helicase senataxin)
H48Y (p.His48Tyr) in SETX (Helicase senataxin) is a missense change. The record also includes structural context.
H48Y (p.His48Tyr) variant details
- p.His48Tyr
- Ensembl rs1848477577
- Missense
- Structural context available