P120S (p.Pro120Ser) variant of HMGCS2 (P54868)
P120S (p.Pro120Ser) in HMGCS2 (P54868) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P120S (p.Pro120Ser) variant details
- p.Pro120Ser
- ExAC rs758033248
- TOPMed rs758033248
- gnomAD rs758033248
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available