L12Q (p.Leu12Gln) variant of HMGCS2 (P54868)
L12Q (p.Leu12Gln) 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 0.44 / 1. The record also includes population frequency data and structural context.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- rs939049952
- ClinGen CA341869767
- ClinVar RCV001911824
- TOPMed rs939049952
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.43
- CADD 22.20
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0015)
- Structural context available