A416S (p.Ala416Ser) variant of ACADVL (P49748)
A416S (p.Ala416Ser) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A416S (p.Ala416Ser) variant details
- p.Ala416Ser
- rs118204018
- ClinGen CA8338046
- ClinVar RCV000668964
- ExAC rs118204018
- Conflicting interpretations
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.93
- CADD 29.10
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)