R474W (p.Arg474Trp) variant of CYP27A1 (Q02318)
R474W (p.Arg474Trp) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R474W (p.Arg474Trp) variant details
- p.Arg474Trp
- rs121908098
- ClinGen CA340215
- ClinVar RCV000004481
- ClinVar RCV002264907
- Pathogenic/Likely pathogenic
- not provided; Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.90
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cholestanol storage disease)
- EBI: Pathogenic (in CTX)
- UniProt: Pathogenic (in CTX)
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available
- Cited in: Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis… (PMID 7915755)
- Cited in: Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. (PMID 12000359)