C1148R (p.Cys1148Arg) variant of CRB1 (Protein crumbs homolog 1)
C1148R (p.Cys1148Arg) 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; Pigmented paravenous retinochor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
C1148R (p.Cys1148Arg) variant details
- p.Cys1148Arg
- rs2125500491
- ClinGen CA344047937
- ClinVar RCV001951032
- ClinVar RCV003475229
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Leber congenital amaurosis 8; Pigmented paravenous retinochor
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.96
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Leber congenital amaurosis 8; Pigmented parav)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)