R395H (p.Arg395His) variant of CYP27A1 (Q02318)
R395H (p.Arg395His) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R395H (p.Arg395His) variant details
- p.Arg395His
- rs587778778
- ClinGen CA345162
- ClinVar RCV000056074
- ClinVar RCV000593893
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- REVEL 0.98
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Cholestanol storage dise)
- EBI: Pathogenic (in CTX)
- UniProt: Pathogenic (in CTX)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)