K127E (p.Lys127Glu) variant of CEP290 (Centrosomal protein of 290 kDa)
K127E (p.Lys127Glu) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
K127E (p.Lys127Glu) variant details
- p.Lys127Glu
- ExAC rs781101346
- TOPMed rs781101346
- gnomAD rs781101346
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available