I117R (p.Ile117Arg) variant of HMGCS2 (P54868)
I117R (p.Ile117Arg) in HMGCS2 (P54868) is a missense change. The record also includes structural context.
I117R (p.Ile117Arg) variant details
- p.Ile117Arg
- Ensembl rs1571042378
- Missense
- Structural context available