R137P (p.Arg137Pro) variant of CYP27A1 (Q02318)
R137P (p.Arg137Pro) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
R137P (p.Arg137Pro) variant details
- p.Arg137Pro
- rs587778818
- ClinGen CA350583952
- ClinVar RCV002834003
- Likely pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- AlphaMissense 0.56
- MetaLR 0.58
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.88
- ClinVar: Likely pathogenic (Cholestanol storage disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)