C383Y (p.Cys383Tyr) variant of CRB1 (Protein crumbs homolog 1)
C383Y (p.Cys383Tyr) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C383Y (p.Cys383Tyr) variant details
- p.Cys383Tyr
- rs62645754
- ClinGen CA227987
- ClinVar RCV000086304
- ClinVar RCV001002989
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Leber congenital amaurosis 8; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.86
- MetaLR 1.00
- MetaSVM 1.44
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.01
- 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 2.2e-05)
- Structural context available
- Cited in: Mutations in the CRB1 gene cause Leber congenital amaurosis. (PMID 11231775)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)