G388R (p.Gly388Arg) variant of HMGCS2 (P54868)
G388R (p.Gly388Arg) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G388R (p.Gly388Arg) variant details
- p.Gly388Arg
- rs752626288
- ClinGen CA1037663
- ClinVar RCV000520978
- ClinVar RCV002525119
- Pathogenic
- not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.86
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Pathogenic (in HMGCS2D)
- UniProt: Pathogenic (in HMGCS2D)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Cited in: New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations. (PMID 23751782)
- Cited in: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations… (PMID 11228257)