P89S (p.Pro89Ser) variant of ACADVL (P49748)
P89S (p.Pro89Ser) 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 record also includes published literature and structural context.
P89S (p.Pro89Ser) variant details
- p.Pro89Ser
- rs2508253534
- cosmic curated COSV10452
- ClinGen CA397722455
- ClinVar RCV002286691
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)