E97Q (p.Glu97Gln) variant of CEP290 (Centrosomal protein of 290 kDa)
E97Q (p.Glu97Gln) 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 0.51 / 1. The record also includes population frequency data and structural context.
E97Q (p.Glu97Gln) variant details
- p.Glu97Gln
- 1000Genomes rs386834153
- ExAC rs386834153
- TOPMed rs386834153
- gnomAD rs386834153
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.32
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.07
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available