A33T (p.Ala33Thr) variant of CYP27A1 (Q02318)
A33T (p.Ala33Thr) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- rs1275043449
- ClinGen CA350575897
- ClinVar RCV001998020
- TOPMed rs1275043449
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.12
- CADD 8.55
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)