V384M (p.Val384Met) variant of ACAD9 (Q9H845)
V384M (p.Val384Met) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V384M (p.Val384Met) variant details
- p.Val384Met
- rs1447947184
- UniProt VAR 076178
- TOPMed rs1447947184
- gnomAD rs1447947184
- Likely pathogenic
- Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Pathogenic (in MC1DN20)
- UniProt: Pathogenic (in MC1DN20)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. (PMID 26741492)
- Cited in: A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. (PMID 17564966)