I1100T (p.Ile1100Thr) variant of CRB1 (Protein crumbs homolog 1)
I1100T (p.Ile1100Thr) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I1100T (p.Ile1100Thr) variant details
- p.Ile1100Thr
- rs62635659
- ClinGen CA228035
- ClinVar RCV000086339
- ClinVar RCV001857424
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis 8; Retinitis pigmentosa 12; Leber congenital amaurosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.74
- AlphaMissense 0.77
- MetaLR 0.64
- MetaSVM 0.22
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis 8; Retinitis pigmentosa 12; Leber con)
- EBI: Pathogenic (in RP12)
- UniProt: Pathogenic (in RP12)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Cited in: Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis… (PMID 12843338)
- Cited in: CRB1 mutation spectrum in inherited retinal dystrophies. (PMID 15459956)