E42* (p.Glu42Ter) variant of VDR (Vitamin D3 receptor)
E42* (p.Glu42Ter) in VDR (Vitamin D3 receptor) is a protein-truncating change. The record also includes structural context.
E42* (p.Glu42Ter) variant details
- p.Glu42Ter
- cosmic curated COSV99968
- Stop Gained
- Structural context available