F458L (p.Phe458Leu) variant of ACADVL (P49748)
F458L (p.Phe458Leu) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
F458L (p.Phe458Leu) variant details
- p.Phe458Leu
- rs118204017
- ClinGen CA251907
- ClinVar RCV000001699
- ClinVar RCV001731269
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.83
- CADD 22.70
- PolyPhen-2 0.98
- SIFT 0.19
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and… (PMID 10077518)
- Cited in: Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase. (PMID 9461620)