R414C (p.Arg414Cys) variant of ACAD9 (Q9H845)
R414C (p.Arg414Cys) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R414C (p.Arg414Cys) variant details
- p.Arg414Cys
- rs777282696
- ClinGen CA2601442
- ClinVar RCV000480130
- ClinVar RCV001275865
- Pathogenic/Likely pathogenic
- Acyl-CoA dehydrogenase 9 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.94
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- 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 0.00021)
- Structural context available
- Cited in: Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. (PMID 23836383)
- Cited in: A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. (PMID 17564966)