A29T (p.Ala29Thr) variant of CYP27A1 (Q02318)
A29T (p.Ala29Thr) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- rs1266912871
- ClinGen CA350575803
- ClinVar RCV002447983
- ClinVar RCV003099986
- Uncertain significance
- Cholestanol storage disease; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.08
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Cholestanol storage disease; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)