R116H (p.Arg116His) variant of HMGCS2 (P54868)
R116H (p.Arg116His) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.65 / 1. The record also includes population frequency data and structural context.
R116H (p.Arg116His) variant details
- p.Arg116His
- rs147906427
- ClinGen CA1037906
- cosmic curated COSV65567
- ClinVar RCV000700818
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.77
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.04
- ClinVar: Uncertain significance (3-hydroxy-3-methylglutaryl-CoA synthase deficiency; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available