L88F (p.Leu88Phe) variant of HMGCS2 (P54868)
L88F (p.Leu88Phe) in HMGCS2 (P54868) is a missense change. The record also includes structural context.
L88F (p.Leu88Phe) variant details
- p.Leu88Phe
- cosmic curated COSV65569
- Ensembl rs2101273969
- Missense
- Structural context available