R395C (p.Arg395Cys) variant of CYP27A1 (Q02318)
R395C (p.Arg395Cys) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; 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.
R395C (p.Arg395Cys) variant details
- p.Arg395Cys
- rs121908096
- ClinGen CA340211
- ClinVar RCV000004477
- ClinVar RCV000275162
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.91
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Cholestanol storage dise)
- EBI: Pathogenic (in CTX)
- UniProt: Pathogenic (in CTX)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00057)
- Structural context available
- Cited in: Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. (PMID 2019602)
- Cited in: Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. (PMID 12000359)