R114S (p.Arg114Ser) variant of CEP290 (Centrosomal protein of 290 kDa)
R114S (p.Arg114Ser) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
R114S (p.Arg114Ser) variant details
- p.Arg114Ser
- ExAC rs776101043
- TOPMed rs776101043
- gnomAD rs776101043
- Missense
- Structural context available