G1103R (p.Gly1103Arg) variant of CRB1 (Protein crumbs homolog 1)
G1103R (p.Gly1103Arg) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G1103R (p.Gly1103Arg) variant details
- p.Gly1103Arg
- rs62636275
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6632
- cosmic curated COSV66328
- Pathogenic
- Retinal dystrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.46
- CADD 20.50
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Pathogenic (Retinal dystrophy; Retinitis pigmentosa 12; Leber congenital ama)
- EBI: Pathogenic (in LCA8 and RP12)
- UniProt: Pathogenic (in LCA8 and RP12)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition… (PMID 15024725)
- Cited in: A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. (PMID 16543197)