P296L (p.Pro296Leu) variant of ACADVL (P49748)
P296L (p.Pro296Leu) 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 0.72 / 1. The record also includes published literature and structural context.
P296L (p.Pro296Leu) variant details
- p.Pro296Leu
- rs2071287235
- ClinGen CA397723903
- ClinVar RCV002839557
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.22
- MetaLR 0.94
- MetaSVM 0.94
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.56
- 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)