G19A (p.Gly19Ala) variant of CYP27A1 (Q02318)
G19A (p.Gly19Ala) 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 0.43 / 1. The record also includes published literature and structural context.
G19A (p.Gly19Ala) variant details
- p.Gly19Ala
- rs1203579586
- ClinGen CA350575596
- ClinVar RCV002042561
- TOPMed rs1203579586
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.10
- MetaLR 0.39
- MetaSVM -0.51
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.46
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)