C330Y (p.Cys330Tyr) variant of RPE65 (Retinoid isomerohydrolase)
C330Y (p.Cys330Tyr) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C330Y (p.Cys330Tyr) variant details
- p.Cys330Tyr
- rs61752908
- ClinGen CA226599
- ClinVar RCV000085237
- ClinVar RCV000808234
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.75
- MetaLR 0.86
- MetaSVM 0.82
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. (PMID 10090910)
- Cited in: Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition… (PMID 15024725)