W17* (p.Trp17Ter) variant of CYP27B1 (O15528)
W17* (p.Trp17Ter) in CYP27B1 (O15528) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W17* (p.Trp17Ter) variant details
- p.Trp17Ter
- rs2140398340
- ClinGen CA385510247
- ClinVar RCV001388293
- Ensembl rs2140398340
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available