K28N (p.Lys28Asn) variant of CYP27A1 (Q02318)
K28N (p.Lys28Asn) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K28N (p.Lys28Asn) variant details
- p.Lys28Asn
- rs958713867
- ClinGen CA65813717
- ClinVar RCV001908012
- gnomAD rs958713867
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.20
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.14
- 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)