E74Q (p.Glu74Gln) variant of CEP290 (Centrosomal protein of 290 kDa)
E74Q (p.Glu74Gln) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E74Q (p.Glu74Gln) variant details
- p.Glu74Gln
- TOPMed rs1243132131
- gnomAD rs1243132131
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.21
- CADD 24.50
- PolyPhen-2 0.60
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available