Q4* (p.Gln4Ter) variant of RPE65 (Retinoid isomerohydrolase)
Q4* (p.Gln4Ter) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q4* (p.Gln4Ter) variant details
- p.Gln4Ter
- rs748096417
- ClinGen CA902659
- ClinVar RCV003032078
- ClinVar RCV003465900
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Autosomal Recessive RPE65-Related Retinal Degeneration. (PMID 31725251)