D354G (p.Asp354Gly) variant of CYP27A1 (Q02318)
D354G (p.Asp354Gly) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
D354G (p.Asp354Gly) variant details
- p.Asp354Gly
- rs72551320
- ClinGen CA345156
- ClinVar RCV000056067
- Ensembl rs72551320
- Pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.19
- MetaLR 0.24
- MetaSVM -0.75
- PolyPhen-2 0.15
- SIFT 0.06
- MutPred 0.88
- ClinVar: Pathogenic (Cholestanol storage disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)