R417C (p.Arg417Cys) variant of ACAD9 (Q9H845)
R417C (p.Arg417Cys) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Mitochondrial complex I deficiency; Acyl-CoA dehydrogenase 9 defic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R417C (p.Arg417Cys) variant details
- p.Arg417Cys
- rs368949613
- ClinGen CA129516
- ClinVar RCV000023865
- ClinVar RCV001852030
- Pathogenic/Likely pathogenic
- not provided; Mitochondrial complex I deficiency; Acyl-CoA dehydrogenase 9 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.95
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Mitochondrial complex I deficiency; Acyl-CoA dehyd)
- EBI: Pathogenic (in MC1DN20)
- UniProt: Pathogenic (in MC1DN20)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. (PMID 21057504)
- Cited in: A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. (PMID 17564966)