S123C (p.Ser123Cys) variant of HMGCS2 (P54868)
S123C (p.Ser123Cys) in HMGCS2 (P54868) is a missense change. The record also includes structural context.
S123C (p.Ser123Cys) variant details
- p.Ser123Cys
- ExAC rs755489615
- gnomAD rs755489615
- Missense
- Structural context available