A30S (p.Ala30Ser) variant of CYP27A1 (Q02318)
A30S (p.Ala30Ser) 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 record also includes structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- Ensembl rs990677310
- Uncertain significance
- Cholestanol storage disease
- Missense
- ClinVar: Uncertain significance (Cholestanol storage disease)
- UniProt: Uncertain significance
- Structural context available