I1100R (p.Ile1100Arg) variant of CRB1 (Protein crumbs homolog 1)
I1100R (p.Ile1100Arg) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented paravenous reti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
I1100R (p.Ile1100Arg) variant details
- p.Ile1100Arg
- rs62635659
- ClinGen CA117707
- ClinVar RCV000006088
- ClinVar RCV000086340
- Conflicting interpretations
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented paravenous reti
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 0.77
- MetaLR 0.64
- MetaSVM 0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- Structural context available
- Cited in: Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with… (PMID 11389483)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)