R532W (p.Arg532Trp) variant of ACAD9 (Q9H845)
R532W (p.Arg532Trp) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R532W (p.Arg532Trp) variant details
- p.Arg532Trp
- rs377022708
- ClinGen CA129521
- ClinVar RCV000023869
- ClinVar RCV000200123
- Pathogenic/Likely pathogenic
- Mitochondrial complex I deficiency; not provided; Acyl-CoA dehydrogenase 9 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.75
- CADD 27.90
- PolyPhen-2 0.98
- 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 East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old… (PMID 20929961)
- Cited in: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. (PMID 21057504)