E112* (p.Glu112Ter) variant of VDR (Vitamin D3 receptor)
E112* (p.Glu112Ter) in VDR (Vitamin D3 receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E112* (p.Glu112Ter) variant details
- p.Glu112Ter
- rs2539985015
- cosmic curated COSV99968
- ClinGen CA384519588
- ClinVar RCV003542846
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available