K382N (p.Lys382Asn) variant of ACADVL (P49748)
K382N (p.Lys382Asn) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Very long chain acyl-CoA dehydrogenase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
K382N (p.Lys382Asn) variant details
- p.Lys382Asn
- rs1057523504
- ClinGen CA16607872
- ClinVar RCV000432798
- ClinVar RCV001200751
- Conflicting interpretations
- Very long chain acyl-CoA dehydrogenase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.91
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Very long chain acyl-CoA dehydrogenase deficiency; not provided)
- EBI: Likely pathogenic (in ACADVLD)
- UniProt: Likely pathogenic (in ACADVLD)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)