F174L (p.Phe174Leu) variant of HMGCS2 (P54868)
F174L (p.Phe174Leu) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
F174L (p.Phe174Leu) variant details
- p.Phe174Leu
- rs137852636
- ClinGen CA120247
- ClinVar RCV000009839
- UniProt VAR 032711
- Pathogenic/Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.78
- CADD 24.20
- PolyPhen-2 0.85
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Pathogenic (in HMGCS2D)
- UniProt: Pathogenic (in HMGCS2D)
- Population evidence available
- Structural context available
- Cited in: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations… (PMID 11228257)
- Cited in: New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations. (PMID 23751782)