A3C (p.Ala3Cys) variant of CYP27A1 (Q02318)
A3C (p.Ala3Cys) in CYP27A1 (Q02318) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A3C (p.Ala3Cys) variant details
- p.Ala3Cys
- rs587778802
- gnomAD 2-218782186-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 28.50
- Population evidence available
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)
- Cited in: Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family. (PMID 7860076)