R18C (p.Arg18Cys) variant of CYP27A1 (Q02318)
R18C (p.Arg18Cys) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R18C (p.Arg18Cys) variant details
- p.Arg18Cys
- rs1284837909
- ClinGen CA350575567
- ClinVar RCV003059263
- TOPMed rs1284837909
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.20
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)