C21R (p.Cys21Arg) variant of CYP27A1 (Q02318)
C21R (p.Cys21Arg) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
C21R (p.Cys21Arg) variant details
- p.Cys21Arg
- rs751804153
- ClinGen CA2112506
- ClinVar RCV001924253
- ExAC rs751804153
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.08
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)