R92H (p.Arg92His) variant of HMGCS2 (P54868)
R92H (p.Arg92His) 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 0.22 / 1. The record also includes population frequency data and structural context.
R92H (p.Arg92His) variant details
- p.Arg92His
- rs144921290
- ClinGen CA1037918
- cosmic curated COSV65568
- ClinVar RCV000262956
- Uncertain significance
- not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.29
- CADD 3.01
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DAI population (allele frequency 0.056)
- Structural context available