L9P (p.Leu9Pro) variant of CYP27A1 (Q02318)
L9P (p.Leu9Pro) 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 record also includes published literature and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- rs2470201632
- ClinGen CA350575385
- ClinVar RCV002295799
- Uncertain significance
- Cholestanol storage disease
- Missense
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)