L14V (p.Leu14Val) variant of ACADVL (P49748)
L14V (p.Leu14Val) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Very long chain acyl-CoA dehydrogenase deficiency. The record also includes published literature and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- rs2508230766
- ClinGen CA397721969
- ClinVar RCV003837246
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)