Y12* (p.Tyr12Ter) variant of RPE65 (Retinoid isomerohydrolase)
Y12* (p.Tyr12Ter) in RPE65 (Retinoid isomerohydrolase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Y12* (p.Tyr12Ter) variant details
- p.Tyr12Ter
- rs1233702775
- ClinGen CA340750300
- ClinVar RCV003466257
- gnomAD rs1233702775
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)