E413K (p.Glu413Lys) variant of ACAD9 (Q9H845)
E413K (p.Glu413Lys) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mitochondrial complex I deficiency; not provided; Acyl-CoA dehydrogenase 9 defic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E413K (p.Glu413Lys) variant details
- p.Glu413Lys
- rs149753643
- ClinGen CA353819
- ClinVar RCV000756947
- ClinVar RCV001782730
- Pathogenic/Likely pathogenic
- Mitochondrial complex I deficiency; not provided; Acyl-CoA dehydrogenase 9 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.95
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial complex I deficiency; not provided; Acyl-CoA dehyd)
- EBI: Pathogenic (in MC1DN20)
- UniProt: Pathogenic (in MC1DN20)
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. (PMID 20816094)
- Cited in: A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. (PMID 17564966)