E49* (p.Glu49Ter) variant of HMGCR (P04035)
E49* (p.Glu49Ter) in HMGCR (P04035) is a protein-truncating change. The record also includes structural context.
E49* (p.Glu49Ter) variant details
- p.Glu49Ter
- cosmic curated COSV55317
- Stop Gained
- Structural context available