C681Y (p.Cys681Tyr) variant of CRB1 (Protein crumbs homolog 1)
C681Y (p.Cys681Tyr) 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; Retinitis pigmentosa 12; Leber congenital amaurosis 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C681Y (p.Cys681Tyr) variant details
- p.Cys681Tyr
- rs62636266
- ClinGen CA228000
- ClinVar RCV000086312
- ClinVar RCV001046839
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.96
- MetaLR 1.00
- MetaSVM 1.46
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Retinitis pigmentosa 12; Leber congenital ama)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)