P25S (p.Pro25Ser) variant of HMGCS2 (P54868)
P25S (p.Pro25Ser) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The record also includes structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- rs144744634
- ClinGen CA341869470
- ClinVar RCV001999114
- ESP rs144744634
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- ClinVar: Uncertain significance (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available