P401R (p.Pro401Arg) variant of CYP27A1 (Q02318)
P401R (p.Pro401Arg) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
P401R (p.Pro401Arg) variant details
- p.Pro401Arg
- rs587778780
- ClinGen CA345165
- ClinVar RCV000056076
- Ensembl rs587778780
- Pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 0.92
- MetaLR 0.67
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Pathogenic (Cholestanol storage disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)