R112W (p.Arg112Trp) variant of HMGCS2 (P54868)
R112W (p.Arg112Trp) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R112W (p.Arg112Trp) variant details
- p.Arg112Trp
- rs768707273
- ClinGen CA1037908
- ClinVar RCV002932473
- UniProt VAR 083500
- Conflicting interpretations
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.55
- CADD 24.60
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Pathogenic (in HMGCS2D)
- UniProt: Pathogenic (in HMGCS2D)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New… (PMID 29597274)
- Cited in: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations… (PMID 11228257)