E6* (p.Glu6Ter) variant of RPE65 (Retinoid isomerohydrolase)
E6* (p.Glu6Ter) in RPE65 (Retinoid isomerohydrolase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
E6* (p.Glu6Ter) variant details
- p.Glu6Ter
- rs1315607990
- ClinGen CA340750344
- ClinVar RCV004527500
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available