C45W (p.Cys45Trp) variant of CRB1 (Protein crumbs homolog 1)
C45W (p.Cys45Trp) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Retinal dystrophy; Leber congenital amaurosis 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
C45W (p.Cys45Trp) variant details
- p.Cys45Trp
- rs145141811
- ClinGen CA1311583
- cosmic curated COSV10611
- ClinVar RCV000487047
- Uncertain significance
- not provided; Retinal dystrophy; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.72
- MetaLR 0.95
- MetaSVM 1.06
- CADD 22.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Retinal dystrophy; Leber congenital amaurosis 8)
- EBI: Pathogenic (in RP12)
- UniProt: Pathogenic (in RP12)
- Most common in the Non-Finnish European population (allele frequency 0.00069)
- Structural context available
- Cited in: Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. (PMID 20591486)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)