R479S (p.Arg479Ser) variant of CYP27A1 (Q02318)
R479S (p.Arg479Ser) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R479S (p.Arg479Ser) variant details
- p.Arg479Ser
- rs72551322
- ClinGen CA2112894
- ClinVar RCV001951410
- ESP rs72551322
- Pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.72
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Cholestanol storage disease)
- EBI: Pathogenic (in CTX)
- UniProt: Pathogenic (in CTX)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)