R137W (p.Arg137Trp) variant of CYP27A1 (Q02318)
R137W (p.Arg137Trp) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cholestanol storage disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R137W (p.Arg137Trp) variant details
- p.Arg137Trp
- rs72551312
- ClinGen CA345197
- ClinVar RCV000056112
- ClinVar RCV001268892
- Conflicting interpretations
- Cholestanol storage disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.82
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cholestanol storage disease; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)