R395S (p.Arg395Ser) variant of CYP27A1 (Q02318)
R395S (p.Arg395Ser) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R395S (p.Arg395Ser) variant details
- p.Arg395Ser
- rs121908096
- ClinGen CA340217
- ClinVar RCV000004483
- UniProt VAR 012285
- Pathogenic/Likely pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.92
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cholestanol storage disease)
- EBI: Pathogenic (in CTX)
- UniProt: Pathogenic (in CTX)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme… (PMID 9790667)
- Cited in: Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. (PMID 12000359)