R513C (p.Arg513Cys) variant of CYP27A1 (Q02318)
R513C (p.Arg513Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R513C (p.Arg513Cys) variant details
- p.Arg513Cys
- rs560108684
- ClinGen CA2112938
- ClinVar RCV000673959
- ClinVar RCV004748897
- Pathogenic/Likely pathogenic
- Cholestanol storage disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.66
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cholestanol storage disease; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)