L70M (p.Leu70Met) variant of CEP290 (Centrosomal protein of 290 kDa)
L70M (p.Leu70Met) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
L70M (p.Leu70Met) variant details
- p.Leu70Met
- ExAC rs754757278
- gnomAD rs754757278
- Missense
- Structural context available