C480R (p.Cys480Arg) variant of CRB1 (Protein crumbs homolog 1)
C480R (p.Cys480Arg) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; Leber congenital amaurosis 8; Retinitis pigmentosa 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
C480R (p.Cys480Arg) variant details
- p.Cys480Arg
- rs62636264
- ClinGen CA227993
- ClinVar RCV000086308
- ClinVar RCV000797320
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Leber congenital amaurosis 8; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.92
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Leber congenital amaurosis 8; Retinitis pigme)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- Most common in the Latino/Admixed American population (allele frequency 0.00059)
- Structural context available
- Cited in: Mutations in the CRB1 gene cause Leber congenital amaurosis. (PMID 11231775)
- Cited in: Evaluation of genotype-phenotype associations in leber congenital amaurosis. (PMID 16205573)