G219E (p.Gly219Glu) variant of HMGCS2 (P54868)
G219E (p.Gly219Glu) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G219E (p.Gly219Glu) variant details
- p.Gly219Glu
- ExAC rs761456576
- TOPMed rs761456576
- gnomAD rs761456576
- Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.96
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available