R501P (p.Arg501Pro) variant of HMGCS2 (P54868)
R501P (p.Arg501Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R501P (p.Arg501Pro) variant details
- p.Arg501Pro
- rs372079931
- ClinGen CA30269195
- ClinVar RCV000522718
- ClinVar RCV000805374
- Pathogenic/Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.74
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice. (PMID 31910233)
- Cited in: Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency. (PMID 33045405)