Q126E (p.Gln126Glu) variant of CEP290 (Centrosomal protein of 290 kDa)
Q126E (p.Gln126Glu) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Q126E (p.Gln126Glu) variant details
- p.Gln126Glu
- TOPMed rs1222421581
- gnomAD rs1222421581
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.25
- CADD 23.00
- PolyPhen-2 0.63
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available