R358S (p.Arg358Ser) variant of ETFDH (Q16134)
R358S (p.Arg358Ser) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Multiple acyl-CoA dehydrogenase deficiency. The record also includes published literature and structural context.
R358S (p.Arg358Ser) variant details
- p.Arg358Ser
- rs2479121069
- ClinGen CA358562293
- ClinVar RCV002283899
- Pathogenic/Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)