E132K (p.Glu132Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
E132K (p.Glu132Lys) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E132K (p.Glu132Lys) variant details
- p.Glu132Lys
- TOPMed rs2040369291
- gnomAD rs2040369291
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.08
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.69
- Population evidence available
- Structural context available