G208E (p.Gly208Glu) variant of ACADVL (P49748)
G208E (p.Gly208Glu) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of ACADVL-related disorder; Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G208E (p.Gly208Glu) variant details
- p.Gly208Glu
- rs2071251302
- ClinGen CA397723336
- ClinVar RCV001200742
- ClinVar RCV003396814
- Conflicting interpretations
- ACADVL-related disorder; Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.72
- ClinVar: Conflicting classifications of pathogenicity (ACADVL-related disorder; Very long chain acyl-CoA dehydrogenase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)