V141D (p.Val141Asp) variant of HMGCS2 (P54868)
V141D (p.Val141Asp) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The record also includes structural context.
V141D (p.Val141Asp) variant details
- p.Val141Asp
- rs1406920400
- ClinGen CA341865290
- ClinVar RCV001794523
- TOPMed rs1406920400
- Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- ClinVar: Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available