G19S (p.Gly19Ser) variant of CYP27A1 (Q02318)
G19S (p.Gly19Ser) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cholestanol storage disease; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- rs758959471
- ClinGen CA2112504
- ClinVar RCV002344890
- ClinVar RCV003096806
- Conflicting interpretations
- Cholestanol storage disease; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.33
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Cholestanol storage disease; not provided; Cardiovascular phenot)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)