M59L (p.Met59Leu) variant of CEP290 (Centrosomal protein of 290 kDa)
M59L (p.Met59Leu) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
M59L (p.Met59Leu) variant details
- p.Met59Leu
- TOPMed rs1272110007
- gnomAD rs1272110007
- Missense
- Structural context available