A216P (p.Ala216Pro) variant of CYP27A1 (Q02318)
A216P (p.Ala216Pro) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A216P (p.Ala216Pro) variant details
- p.Ala216Pro
- rs201346271
- ClinGen CA345222
- ClinVar RCV000056130
- ClinVar RCV001268441
- Pathogenic/Likely pathogenic
- not provided; Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.67
- CADD 35.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cholestanol storage disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)