C21Y (p.Cys21Tyr) variant of CYP27A1 (Q02318)
C21Y (p.Cys21Tyr) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C21Y (p.Cys21Tyr) variant details
- p.Cys21Tyr
- rs757653354
- ClinGen CA2112507
- ClinVar RCV002041305
- ExAC rs757653354
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.31
- CADD 16.40
- PolyPhen-2 0.37
- SIFT 0.96
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.5e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)