A4D (p.Ala4Asp) variant of ACADVL (P49748)
A4D (p.Ala4Asp) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- rs1019684161
- ClinGen CA397721912
- ClinVar RCV001899209
- gnomAD rs1019684161
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.39
- CADD 16.50
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)