L70W (p.Leu70Trp) variant of CEP290 (Centrosomal protein of 290 kDa)
L70W (p.Leu70Trp) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
L70W (p.Leu70Trp) variant details
- p.Leu70Trp
- TOPMed rs2040522347
- Missense
- Structural context available