R479P (p.Arg479Pro) variant of CYP27A1 (Q02318)
R479P (p.Arg479Pro) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R479P (p.Arg479Pro) variant details
- p.Arg479Pro
- rs199638075
- ClinGen CA2112896
- ClinVar RCV003086015
- 1000Genomes rs199638075
- Likely pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.79
- CADD 32.00
- 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 Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)