R127Q (p.Arg127Gln) variant of CYP27A1 (Q02318)
R127Q (p.Arg127Gln) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R127Q (p.Arg127Gln) variant details
- p.Arg127Gln
- rs376230356
- ClinGen CA345195
- ClinVar RCV000056111
- ClinVar RCV003480049
- Pathogenic
- not provided; Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.73
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Cholestanol storage disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)