R64T (p.Arg64Thr) variant of ETFDH (Q16134)
R64T (p.Arg64Thr) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple acyl-CoA dehydrogenase deficiency. The record also includes published literature and structural context.
R64T (p.Arg64Thr) variant details
- p.Arg64Thr
- rs2479080051
- ClinGen CA358573799
- ClinVar RCV003340802
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)