E36K (p.Glu36Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
E36K (p.Glu36Lys) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- TOPMed rs868347260
- gnomAD rs868347260
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.14
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available