E218K (p.Glu218Lys) variant of ACADVL (P49748)
E218K (p.Glu218Lys) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E218K (p.Glu218Lys) variant details
- p.Glu218Lys
- rs1432183079
- ClinGen CA397723393
- ClinVar RCV000556767
- UniProt VAR 000336
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.96
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. (PMID 9973285)
- Cited in: Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and… (PMID 10077518)