F471L (p.Phe471Leu) variant of ACADVL (P49748)
F471L (p.Phe471Leu) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
F471L (p.Phe471Leu) variant details
- p.Phe471Leu
- rs2508350455
- ClinGen CA397725059
- ClinVar RCV003499698
- Pathogenic/Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.84
- CADD 25.10
- PolyPhen-2 0.74
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)