G350D (p.Gly350Asp) variant of ACADVL (P49748)
G350D (p.Gly350Asp) 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 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.
G350D (p.Gly350Asp) variant details
- p.Gly350Asp
- rs1343647718
- ClinGen CA397724238
- ClinVar RCV002904000
- gnomAD rs1343647718
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.98
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 0.97
- CADD 26.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)