E1403D (p.Glu1403Asp) variant of CRB1 (Protein crumbs homolog 1)
E1403D (p.Glu1403Asp) 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; Leber congenital amaurosi. The record also includes variant effect predictions, published literature, and structural context.
E1403D (p.Glu1403Asp) variant details
- p.Glu1403Asp
- rs1490587812
- ClinGen CA344036102
- ClinVar RCV001975783
- TOPMed rs1490587812
- Likely pathogenic
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Leber congenital amaurosi
- Missense
- MutPred 0.33
- ClinVar: Likely pathogenic (Retinitis pigmentosa 12; Leber congenital amaurosis 8; Leber con)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)