F44I (p.Phe44Ile) variant of ACAD9 (Q9H845)
F44I (p.Phe44Ile) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acyl-CoA dehydrogenase 9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
F44I (p.Phe44Ile) variant details
- p.Phe44Ile
- rs387907041
- ClinGen CA129517
- ClinVar RCV000023866
- UniProt VAR 071892
- Likely pathogenic
- Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.79
- MetaLR 0.93
- MetaSVM 1.03
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.85
- ClinVar: Likely pathogenic (Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Pathogenic (in MC1DN20)
- UniProt: Pathogenic (in MC1DN20)
- 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)