R51P (p.Arg51Pro) variant of ETFDH (Q16134)
R51P (p.Arg51Pro) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple acyl-CoA dehydrogenase deficiency. The record also includes variant effect predictions, published literature, and structural context.
R51P (p.Arg51Pro) variant details
- p.Arg51Pro
- rs534388496
- ClinGen CA358573534
- ClinVar RCV001980762
- 1000Genomes rs534388496
- Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- MutPred 0.30
- ClinVar: Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)