T485S (p.Thr485Ser) variant of ETFDH (Q16134)
T485S (p.Thr485Ser) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency. The record also includes published literature and structural context.
T485S (p.Thr485Ser) variant details
- p.Thr485Ser
- rs2476733074
- ClinGen CA358564624
- ClinVar RCV003476363
- Likely pathogenic
- Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- ClinVar: Likely pathogenic (Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase defic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)