K382Q (p.Lys382Gln) variant of ACADVL (P49748)
K382Q (p.Lys382Gln) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
K382Q (p.Lys382Gln) variant details
- p.Lys382Gln
- rs118204015
- ClinGen CA251906
- ClinVar RCV000001695
- UniProt VAR 000352
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.96
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.05
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and… (PMID 8554073)
- Cited in: Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and… (PMID 10077518)