C450Y (p.Cys450Tyr) variant of CRB1 (Protein crumbs homolog 1)
C450Y (p.Cys450Tyr) 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 Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C450Y (p.Cys450Tyr) variant details
- p.Cys450Tyr
- rs746597173
- ClinGen CA1311910
- NCI-TCGA Cosmic COSV6633
- cosmic curated COSV66330
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.91
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)