A213V (p.Ala213Val) variant of ACADVL (P49748)
A213V (p.Ala213Val) 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 0.93 / 1. The record also includes published literature and structural context.
A213V (p.Ala213Val) variant details
- p.Ala213Val
- rs2071252145
- ClinGen CA397723366
- ClinVar RCV001200744
- Ensembl rs2071252145
- Conflicting interpretations
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.85
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Conflicting classifications of pathogenicity (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance (in ACADVLD)
- UniProt: Uncertain significance (in ACADVLD)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)