R44* (p.Arg44Ter) variant of RPE65 (Retinoid isomerohydrolase)
R44* (p.Arg44Ter) in RPE65 (Retinoid isomerohydrolase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LCA2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R44* (p.Arg44Ter) variant details
- p.Arg44Ter
- rs368088025
- ClinGen CA902588
- ClinVar RCV000416243
- ClinVar RCV000528380
- Pathogenic
- in LCA2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 38.00
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the East Asian population (allele frequency 0.00019)
- 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)