F369C (p.Phe369Cys) variant of ACADVL (P49748)
F369C (p.Phe369Cys) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
F369C (p.Phe369Cys) variant details
- p.Phe369Cys
- rs398123080
- ClinGen CA397724366
- ClinVar RCV004526362
- ClinVar RCV005015176
- Conflicting interpretations
- not specified; Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.96
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.09
- CADD 31.00
- PolyPhen-2 0.97
- ClinVar: Conflicting classifications of pathogenicity (not specified; Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)