R10K (p.Arg10Lys) variant of CYP27A1 (Q02318)
R10K (p.Arg10Lys) 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.
R10K (p.Arg10Lys) variant details
- p.Arg10Lys
- rs1943397146
- ClinGen CA350575401
- ClinVar RCV002686221
- TOPMed rs1943397146
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.14
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)