C948Y (p.Cys948Tyr) variant of CRB1 (Protein crumbs homolog 1)
C948Y (p.Cys948Tyr) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary macular dystrophy; CRB1-related disorder; Leber congenital amaurosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C948Y (p.Cys948Tyr) variant details
- p.Cys948Tyr
- rs62645748
- ClinGen CA228022
- cosmic curated COSV66329
- ClinVar RCV000032814
- Pathogenic
- Hereditary macular dystrophy; CRB1-related disorder; Leber congenital amaurosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.89
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hereditary macular dystrophy; CRB1-related disorder; Leber conge)
- EBI: Pathogenic (in RP12 and LCA8)
- UniProt: Pathogenic (in RP12 and LCA8)
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Cited in: Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). (PMID 10508521)
- Cited in: Mutations in the CRB1 gene cause Leber congenital amaurosis. (PMID 11231775)