W268C (p.Trp268Cys) variant of CYP27A1 (Q02318)
W268C (p.Trp268Cys) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
W268C (p.Trp268Cys) variant details
- p.Trp268Cys
- rs1943736101
- ClinGen CA350587346
- ClinVar RCV002025260
- TOPMed rs1943736101
- Pathogenic/Likely pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.65
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cholestanol storage disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)