M93I (p.Met93Ile) variant of HMGCS2 (P54868)
M93I (p.Met93Ile) 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.
M93I (p.Met93Ile) variant details
- p.Met93Ile
- rs1557994090
- ClinGen CA341866452
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10102
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- ClinVar: Uncertain significance (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available