G5D (p.Gly5Asp) variant of CYP27A1 (Q02318)
G5D (p.Gly5Asp) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- rs1943396793
- ClinGen CA350575283
- ClinVar RCV001866335
- NCI-TCGA TCGA novel
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.20
- MetaLR 0.21
- MetaSVM -0.89
- PolyPhen-2 0.58
- SIFT 0.03
- MutPred 0.49
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)