A25S (p.Ala25Ser) variant of CYP27A1 (Q02318)
A25S (p.Ala25Ser) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar 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 0.19 / 1. The record also includes population frequency data and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- ExAC rs746125009
- gnomAD rs746125009
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.10
- CADD 14.70
- PolyPhen-2 0.15
- SIFT 0.17
- ClinVar: Uncertain significance (Cholestanol storage disease)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available