V283A (p.Val283Ala) variant of ACADVL (P49748)
V283A (p.Val283Ala) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V283A (p.Val283Ala) variant details
- p.Val283Ala
- rs113994167
- ClinGen CA285294
- ClinVar RCV000020081
- ClinVar RCV000077925
- Pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.91
- CADD 24.10
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Most common in the REMAINING population (allele frequency 0.0018)
- Structural context available
- Cited in: Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and… (PMID 10077518)
- Cited in: Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene… (PMID 8845838)