R459G (p.Arg459Gly) variant of ACADVL (P49748)
R459G (p.Arg459Gly) 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 0.90 / 1. The record also includes published literature and structural context.
R459G (p.Arg459Gly) variant details
- p.Arg459Gly
- rs766742117
- ClinGen CA397724982
- ClinVar RCV001200710
- ExAC rs766742117
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.80
- MetaLR 0.92
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.04
- EVE 0.84
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)