R127G (p.Arg127Gly) variant of CYP27A1 (Q02318)
R127G (p.Arg127Gly) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R127G (p.Arg127Gly) variant details
- p.Arg127Gly
- rs201114717
- ClinGen CA2112579
- ClinVar RCV002465059
- 1000Genomes rs201114717
- Likely pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.63
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cholestanol storage disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)