I852T (p.Ile852Thr) variant of CRB1 (Protein crumbs homolog 1)
I852T (p.Ile852Thr) 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 Retinal dystrophy; Leber congenital amaurosis 8; Retinitis pigmentosa 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I852T (p.Ile852Thr) variant details
- p.Ile852Thr
- rs62636271
- ClinGen CA228013
- ClinVar RCV000086323
- ClinVar RCV000529725
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Leber congenital amaurosis 8; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.80
- MetaLR 0.60
- MetaSVM 0.29
- CADD 25.00
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Leber congenital amaurosis 8; Retinitis pigme)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition… (PMID 15024725)
- Cited in: Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID 17724218)