C948R (p.Cys948Arg) variant of CRB1 (Protein crumbs homolog 1)
C948R (p.Cys948Arg) 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 Retinal dystrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C948R (p.Cys948Arg) variant details
- p.Cys948Arg
- rs62645747
- ClinGen CA344041407
- ClinVar RCV000515691
- ClinVar RCV000986493
- Pathogenic
- Retinal dystrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.89
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.04
- CADD 27.30
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Retinal dystrophy; Retinitis pigmentosa 12; Leber congenital ama)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal… (PMID 28819299)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)