K139* (p.Lys139Ter) variant of HMGCS2 (P54868)
K139* (p.Lys139Ter) in HMGCS2 (P54868) is a protein-truncating change. The record also includes structural context.
K139* (p.Lys139Ter) variant details
- p.Lys139Ter
- gnomAD rs1232767876
- Stop Gained
- Structural context available