E1403Q (p.Glu1403Gln) variant of CRB1 (Protein crumbs homolog 1)
E1403Q (p.Glu1403Gln) 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; Pigmented paravenous reti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
E1403Q (p.Glu1403Gln) variant details
- p.Glu1403Gln
- rs1667269806
- ClinGen CA344036086
- cosmic curated COSV10095
- ClinVar RCV001065861
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented paravenous reti
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.81
- MetaLR 0.89
- MetaSVM 0.97
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-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)