G212R (p.Gly212Arg) variant of HMGCS2 (P54868)
G212R (p.Gly212Arg) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G212R (p.Gly212Arg) variant details
- p.Gly212Arg
- rs137852638
- ClinGen CA120256
- ClinVar RCV000009841
- ClinVar RCV000498667
- Pathogenic/Likely pathogenic
- not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.98
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Pathogenic (in HMGCS2D)
- UniProt: Pathogenic (in HMGCS2D)
- Most common in the Non-Finnish European population (allele frequency 0.00047)
- Structural context available
- Cited in: Genetic basis of mitochondrial HMG-CoA synthase deficiency. (PMID 11479731)
- Cited in: New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations. (PMID 23751782)