R414S (p.Arg414Ser) variant of ACAD9 (Q9H845)
R414S (p.Arg414Ser) 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; Mitochondrial complex I deficiency; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R414S (p.Arg414Ser) variant details
- p.Arg414Ser
- rs777282696
- ClinGen CA354437211
- ClinVar RCV002021912
- ClinVar RCV004571697
- Pathogenic/Likely pathogenic
- Acyl-CoA dehydrogenase 9 deficiency; Mitochondrial complex I deficiency; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.95
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Acyl-CoA dehydrogenase 9 deficiency; Mitochondrial complex I def)
- EBI: Pathogenic (in MC1DN20)
- UniProt: Pathogenic (in MC1DN20)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available