A349P (p.Ala349Pro) variant of ACADVL (P49748)
A349P (p.Ala349Pro) 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 0.83 / 1. The record also includes published literature and structural context.
A349P (p.Ala349Pro) variant details
- p.Ala349Pro
- rs1567565733
- ClinGen CA397724231
- ClinVar RCV001340911
- TOPMed rs1567565733
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 0.94
- MetaLR 0.91
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.51
- 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)