K299R (p.Lys299Arg) variant of ACADVL (P49748)
K299R (p.Lys299Arg) 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 0.89 / 1. The record also includes published literature and structural context.
K299R (p.Lys299Arg) variant details
- p.Lys299Arg
- rs771247610
- ClinGen CA397723924
- ClinVar RCV000815341
- ExAC rs771247610
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.67
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic (in ACADVLD)
- UniProt: Likely pathogenic (in ACADVLD)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)