Q19R (p.Gln19Arg) variant of HMGCS2 (P54868)
Q19R (p.Gln19Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Q19R (p.Gln19Arg) variant details
- p.Gln19Arg
- rs2101283600
- ClinGen CA341869634
- ClinVar RCV001931383
- Ensembl rs2101283600
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.06
- CADD 8.00
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available