R459W (p.Arg459Trp) variant of ACADVL (P49748)
R459W (p.Arg459Trp) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R459W (p.Arg459Trp) variant details
- p.Arg459Trp
- rs766742117
- ClinGen CA312274
- cosmic curated COSV10499
- ClinVar RCV000506090
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.93
- AlphaMissense 0.80
- MetaLR 0.92
- MetaSVM 1.03
- CADD 26.30
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. (PMID 9973285)
- Cited in: Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and… (PMID 10077518)