D52N (p.Asp52Asn) variant of ETFDH (Q16134)
D52N (p.Asp52Asn) 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 variant effect predictions, published literature, and structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- rs2150304401
- ClinGen CA358573539
- ClinVar RCV001991735
- Ensembl rs2150304401
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- MutPred 0.32
- 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)