E58* (p.Glu58Ter) variant of ETFDH (Q16134)
E58* (p.Glu58Ter) in ETFDH (Q16134) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E58* (p.Glu58Ter) variant details
- p.Glu58Ter
- rs1473188524
- ClinGen CA358573610
- ClinVar RCV002830247
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)