G846R (p.Gly846Arg) variant of CRB1 (Protein crumbs homolog 1)
G846R (p.Gly846Arg) 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; Retinitis pigmentosa 12; Leber congenital amaurosis 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G846R (p.Gly846Arg) variant details
- p.Gly846Arg
- rs539189291
- ClinGen CA1312134
- ClinVar RCV001963012
- ClinVar RCV004794566
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.61
- MetaLR 0.63
- MetaSVM 0.18
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.31
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Retinitis pigmentosa 12; Leber congenital ama)
- EBI: Pathogenic (in RP12)
- UniProt: Pathogenic (in RP12)
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Mutation screening of Pakistani families with congenital eye disorders. (PMID 12573663)
- Cited in: Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. (PMID 20956273)