A220P (p.Ala220Pro) variant of ACAD9 (Q9H845)
A220P (p.Ala220Pro) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acyl-CoA dehydrogenase 9 deficiency. The record also includes structural context.
A220P (p.Ala220Pro) variant details
- p.Ala220Pro
- rs2529261876
- ClinVar RCV004595292
- Likely pathogenic
- Acyl-CoA dehydrogenase 9 deficiency
- Missense
- ClinVar: Likely pathogenic (Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Likely pathogenic (in MC1DN20)
- UniProt: Likely pathogenic (in MC1DN20)
- Structural context available