R500H (p.Arg500His) variant of HMGCS2 (P54868)
R500H (p.Arg500His) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R500H (p.Arg500His) variant details
- p.Arg500His
- rs137852639
- ClinGen CA120258
- ClinVar RCV000009842
- UniProt VAR 032760
- Pathogenic/Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.86
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Pathogenic (in HMGCS2D)
- UniProt: Pathogenic (in HMGCS2D)
- Most common in the Middle Eastern population (allele frequency 0.00052)
- 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)