K39* (p.Lys39Ter) variant of CYP27A1 (Q02318)
K39* (p.Lys39Ter) in CYP27A1 (Q02318) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K39* (p.Lys39Ter) variant details
- p.Lys39Ter
- rs2470201839
- ClinGen CA350576025
- ClinVar RCV003504062
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)