E102* (p.Glu102Ter) variant of RPE65 (Retinoid isomerohydrolase)
E102* (p.Glu102Ter) in RPE65 (Retinoid isomerohydrolase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in RP20 and LCA2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E102* (p.Glu102Ter) variant details
- p.Glu102Ter
- rs62642584
- ClinGen CA226540
- ClinVar RCV000085192
- ClinVar RCV000763389
- Pathogenic
- in RP20 and LCA2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 40.00
- EBI: Pathogenic (in RP20 and LCA2)
- UniProt: Pathogenic (in RP20 and LCA2)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- 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)