S602F (p.Ser602Phe) variant of ACAD9 (Q9H845)
S602F (p.Ser602Phe) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mitochondrial complex I deficiency. The record also includes structural context.
S602F (p.Ser602Phe) variant details
- p.Ser602Phe
- rs2529107329
- ClinGen CA354441606
- ClinVar RCV003324169
- Likely pathogenic
- Mitochondrial complex I deficiency
- Missense
- ClinVar: Likely pathogenic (Mitochondrial complex I deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available