R459P (p.Arg459Pro) variant of ACADVL (P49748)
R459P (p.Arg459Pro) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R459P (p.Arg459Pro) variant details
- p.Arg459Pro
- rs751995154
- ClinGen CA397724983
- ClinVar RCV000652030
- ClinVar RCV004768511
- Conflicting interpretations
- Very long chain acyl-CoA dehydrogenase deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.90
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Very long chain acyl-CoA dehydrogenase deficiency; not specified)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)