P468S (p.Pro468Ser) variant of CYP27A1 (Q02318)
P468S (p.Pro468Ser) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P468S (p.Pro468Ser) variant details
- p.Pro468Ser
- rs587778787
- ClinGen CA345179
- ClinVar RCV000056090
- Ensembl rs587778787
- Pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.86
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cholestanol storage disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)