A390T (p.Ala390Thr) variant of ACAD9 (Q9H845)
A390T (p.Ala390Thr) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Acyl-CoA dehydrogenase 9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A390T (p.Ala390Thr) variant details
- p.Ala390Thr
- rs763004980
- ClinGen CA2601425
- ClinVar RCV001664971
- ClinVar RCV002501999
- Pathogenic/Likely pathogenic
- not provided; Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.53
- AlphaMissense 0.11
- MetaLR 0.90
- MetaSVM 0.92
- CADD 23.40
- PolyPhen-2 0.74
- ClinVar: Pathogenic/Likely pathogenic (not provided; Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available