S418R (p.Ser418Arg) variant of ACADVL (P49748)
S418R (p.Ser418Arg) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
S418R (p.Ser418Arg) variant details
- p.Ser418Arg
- rs2071340371
- ClinGen CA397724698
- ClinVar RCV001200703
- Ensembl rs2071340371
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.89
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)