E95* (p.Glu95Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
E95* (p.Glu95Ter) in CEP290 (Centrosomal protein of 290 kDa) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E95* (p.Glu95Ter) variant details
- p.Glu95Ter
- Ensembl rs865927858
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.879
- CADD 45.00
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available