T126P (p.Thr126Pro) variant of NPC1 (O15118)
T126P (p.Thr126Pro) in NPC1 (O15118) is a missense change. The record also includes structural context.
T126P (p.Thr126Pro) variant details
- p.Thr126Pro
- TOPMed rs1599002810
- Missense
- Structural context available