G438E (p.Gly438Glu) variant of ACADVL (P49748)
G438E (p.Gly438Glu) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G438E (p.Gly438Glu) variant details
- p.Gly438Glu
- rs748450834
- ClinGen CA397724846
- ClinVar RCV000551302
- ExAC rs748450834
- Pathogenic/Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic/Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)