Q86* (p.Gln86Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
Q86* (p.Gln86Ter) in CEP290 (Centrosomal protein of 290 kDa) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Q86* (p.Gln86Ter) variant details
- p.Gln86Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Middle Eastern population (allele frequency 0.00022)
- Structural context available