R116C (p.Arg116Cys) variant of HMGCS2 (P54868)
R116C (p.Arg116Cys) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.67 / 1. The record also includes population frequency data and structural context.
R116C (p.Arg116Cys) variant details
- p.Arg116Cys
- rs200607527
- ClinGen CA312641
- ClinVar RCV000185972
- ClinVar RCV000697575
- Uncertain significance
- not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.73
- CADD 26.50
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available