E74K (p.Glu74Lys) variant of HMGCS2 (P54868)
E74K (p.Glu74Lys) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.82 / 1. The record also includes population frequency data and structural context.
E74K (p.Glu74Lys) variant details
- p.Glu74Lys
- rs587688416
- ClinGen CA1037934
- ClinVar RCV001794522
- 1000Genomes rs587688416
- Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.87
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available