C112* (p.Cys112Ter) variant of RPE65 (Retinoid isomerohydrolase)
C112* (p.Cys112Ter) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C112* (p.Cys112Ter) variant details
- p.Cys112Ter
- rs1448061146
- ClinGen CA340748160
- ClinVar RCV003801208
- gnomAD rs1448061146
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)