R479L (p.Arg479Leu) variant of CYP27A1 (Q02318)
R479L (p.Arg479Leu) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R479L (p.Arg479Leu) variant details
- p.Arg479Leu
- rs199638075
- ClinGen CA2112897
- ClinVar RCV001976677
- 1000Genomes rs199638075
- Likely pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.75
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cholestanol storage disease)
- EBI: Likely pathogenic (in CTX)
- UniProt: Likely pathogenic (in CTX)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)