G477R (p.Gly477Arg) variant of CRB1 (Protein crumbs homolog 1)
G477R (p.Gly477Arg) 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 Leber congenital amaurosis 8; Retinitis pigmentosa 12; Leber congenital amaurosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G477R (p.Gly477Arg) variant details
- p.Gly477Arg
- rs866822473
- ClinGen CA35893461
- ClinVar RCV001075147
- ClinVar RCV001205896
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis 8; Retinitis pigmentosa 12; Leber congenital amaurosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.90
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis 8; Retinitis pigmentosa 12; Leber con)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-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)