R518H (p.Arg518His) variant of ACAD9 (Q9H845)
R518H (p.Arg518His) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Acyl-CoA dehydrogenase 9 deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R518H (p.Arg518His) variant details
- p.Arg518His
- rs781149699
- ClinGen CA2601585
- ClinVar RCV001064710
- ClinVar RCV001275867
- Pathogenic/Likely pathogenic
- Acyl-CoA dehydrogenase 9 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.69
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Pathogenic/Likely pathogenic (Acyl-CoA dehydrogenase 9 deficiency; not provided)
- EBI: Pathogenic (in MC1DN20)
- UniProt: Pathogenic (in MC1DN20)
- Most common in the South Asian population (allele frequency 2.3e-05)
- 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)