R405Q (p.Arg405Gln) variant of CYP27A1 (Q02318)
R405Q (p.Arg405Gln) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R405Q (p.Arg405Gln) variant details
- p.Arg405Gln
- rs121908099
- ClinGen CA340216
- ClinVar RCV000004482
- ClinVar RCV000726759
- Pathogenic/Likely pathogenic
- not provided; Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.89
- CADD 32.00
- 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 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous… (PMID 9186905)
- Cited in: Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. (PMID 12000359)