K299M (p.Lys299Met) variant of ACADVL (P49748)
K299M (p.Lys299Met) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
K299M (p.Lys299Met) variant details
- p.Lys299Met
- rs771247610
- ClinGen CA8337902
- ClinVar RCV001200782
- ExAC rs771247610
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.96
- AlphaMissense 0.67
- MetaLR 0.98
- MetaSVM 1.05
- CADD 30.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- 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)