K299N (p.Lys299Asn) variant of ACADVL (P49748)
K299N (p.Lys299Asn) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
K299N (p.Lys299Asn) variant details
- p.Lys299Asn
- rs774716484
- ClinGen CA8337903
- ClinVar RCV003139568
- UniProt VAR 000345
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.86
- CADD 25.20
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)