K139E (p.Lys139Glu) variant of HMGCS2 (P54868)
K139E (p.Lys139Glu) in HMGCS2 (P54868) is a missense change. The record also includes structural context.
K139E (p.Lys139Glu) variant details
- p.Lys139Glu
- gnomAD rs1232767876
- Missense
- Structural context available