C215Y (p.Cys215Tyr) variant of ACADVL (P49748)
C215Y (p.Cys215Tyr) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
C215Y (p.Cys215Tyr) variant details
- p.Cys215Tyr
- rs761405004
- ClinGen CA397723378
- ClinVar RCV002806498
- Conflicting interpretations
- Very long chain acyl-CoA dehydrogenase deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.71
- MetaLR 0.94
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.48
- ClinVar: Conflicting classifications of pathogenicity (Very long chain acyl-CoA dehydrogenase deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)