R266Q (p.Arg266Gln) variant of ACAD9 (Q9H845)
R266Q (p.Arg266Gln) 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; Acyl-CoA dehydrogenase 9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R266Q (p.Arg266Gln) variant details
- p.Arg266Gln
- rs387907042
- ClinGen CA129518
- ClinVar RCV000023867
- ClinVar RCV001857363
- Pathogenic/Likely pathogenic
- not provided; Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Pathogenic (in MC1DN20)
- UniProt: Pathogenic (in MC1DN20)
- Most common in the South Asian population (allele frequency 3.5e-05)
- 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)