R266W (p.Arg266Trp) variant of ACAD9 (Q9H845)
R266W (p.Arg266Trp) 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 0.70 / 1. The record also includes population frequency data and structural context.
R266W (p.Arg266Trp) variant details
- p.Arg266Trp
- rs753711253
- ClinGen CA353810
- NCI-TCGA Cosmic COSV1004
- ClinVar RCV001007946
- Pathogenic/Likely pathogenic
- Mitochondrial complex I deficiency; not provided; Acyl-CoA dehydrogenase 9 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.88
- CADD 27.70
- PolyPhen-2 0.99
- 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 Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available