A490V (p.Ala490Val) variant of ACADVL (P49748)
A490V (p.Ala490Val) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A490V (p.Ala490Val) variant details
- p.Ala490Val
- rs767941627
- ClinGen CA397725192
- ClinVar RCV003497528
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.55
- CADD 23.70
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic (in ACADVLD)
- UniProt: Likely pathogenic (in ACADVLD)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)