A390V (p.Ala390Val) variant of ACAD9 (Q9H845)
A390V (p.Ala390Val) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Acyl-CoA dehydrogenase 9 deficiency. The record also includes structural context.
A390V (p.Ala390Val) variant details
- p.Ala390Val
- rs2529272943
- ClinGen CA354437057
- ClinVar RCV003225653
- ClinVar RCV006460560
- Conflicting interpretations
- not provided; Acyl-CoA dehydrogenase 9 deficiency
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not specified; Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available