K299E (p.Lys299Glu) variant of ACADVL (P49748)
K299E (p.Lys299Glu) 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 0.95 / 1. The record also includes published literature and structural context.
K299E (p.Lys299Glu) variant details
- p.Lys299Glu
- rs2142979869
- ClinGen CA397723922
- ClinVar RCV001928752
- NCI-TCGA TCGA novel
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.89
- ClinVar: Uncertain significance (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)