R26K (p.Arg26Lys) variant of CYP27A1 (Q02318)
R26K (p.Arg26Lys) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R26K (p.Arg26Lys) variant details
- p.Arg26Lys
- rs192494481
- ClinGen CA65813711
- ClinVar RCV001911923
- 1000Genomes rs192494481
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.31
- CADD 24.70
- PolyPhen-2 0.94
- SIFT 0.06
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)