R500C (p.Arg500Cys) variant of HMGCS2 (P54868)
R500C (p.Arg500Cys) 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 0.80 / 1. The record also includes population frequency data and structural context.
R500C (p.Arg500Cys) variant details
- p.Arg500Cys
- rs756539895
- ClinGen CA1037522
- cosmic curated COSV10943
- ClinVar RCV003622225
- Conflicting interpretations
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.82
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Variant of uncertain significance (in HMGCS2D)
- UniProt: Uncertain significance (in HMGCS2D)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available