E125A (p.Glu125Ala) variant of CEP290 (Centrosomal protein of 290 kDa)
E125A (p.Glu125Ala) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
E125A (p.Glu125Ala) variant details
- p.Glu125Ala
- TOPMed rs2040371532
- Missense
- Structural context available