T745M (p.Thr745Met) variant of CRB1 (Protein crumbs homolog 1)
T745M (p.Thr745Met) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T745M (p.Thr745Met) variant details
- p.Thr745Met
- rs28939720
- ClinGen CA228003
- cosmic curated COSV66329
- ClinVar RCV000006087
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Leber congenital amaurosis 8; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.81
- MetaLR 0.84
- MetaSVM 0.84
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Leber congenital amaurosis 8; Retinitis pigme)
- EBI: Pathogenic (in RP12 and LCA8)
- UniProt: Pathogenic (in RP12 and LCA8)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). (PMID 10508521)
- Cited in: Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition… (PMID 15024725)