G833R (p.Gly833Arg) variant of CRB1 (Protein crumbs homolog 1)
G833R (p.Gly833Arg) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G833R (p.Gly833Arg) variant details
- p.Gly833Arg
- rs1664671663
- ClinGen CA344037792
- ClinVar RCV001074122
- ClinVar RCV002554698
- Likely pathogenic
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.83
- MetaLR 0.96
- MetaSVM 1.07
- CADD 23.30
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Retinitis pigmentosa 12; Leber congenital amaurosis 8)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)