R474Q (p.Arg474Gln) variant of CYP27A1 (Q02318)
R474Q (p.Arg474Gln) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CYP27A1-related disorder; not provided; Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R474Q (p.Arg474Gln) variant details
- p.Arg474Gln
- rs121908097
- ClinGen CA340214
- ClinVar RCV000004480
- ClinVar RCV001650828
- Pathogenic
- CYP27A1-related disorder; not provided; Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (CYP27A1-related disorder; not provided; Cholestanol storage dise)
- EBI: Pathogenic (in CTX)
- UniProt: Pathogenic (in CTX)
- Most common in the East Asian population (allele frequency 0.00019)
- 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)