K264E (p.Lys264Glu) variant of ACADVL (P49748)
K264E (p.Lys264Glu) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
K264E (p.Lys264Glu) variant details
- p.Lys264Glu
- rs1231343685
- ClinGen CA397723695
- ClinVar RCV001210822
- TOPMed rs1231343685
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.87
- CADD 28.30
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)