A513V (p.Ala513Val) variant of ACADVL (P49748)
A513V (p.Ala513Val) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Very long chain acyl-CoA dehydrogenase deficiency. The record also includes structural context.
A513V (p.Ala513Val) variant details
- p.Ala513Val
- ExAC rs766003820
- gnomAD rs766003820
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available