G439D (p.Gly439Asp) variant of ACADVL (P49748)
G439D (p.Gly439Asp) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G439D (p.Gly439Asp) variant details
- p.Gly439Asp
- rs533055438
- ClinGen CA312270
- ClinVar RCV000185723
- ClinVar RCV000703664
- Conflicting interpretations
- not provided; Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.96
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.07
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)