G19V (p.Gly19Val) variant of CYP27A1 (Q02318)
G19V (p.Gly19Val) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- rs1203579586
- ClinGen CA350575602
- ClinVar RCV001983369
- TOPMed rs1203579586
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.43
- AlphaMissense 0.10
- MetaLR 0.39
- MetaSVM -0.51
- CADD 24.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)