R459Q (p.Arg459Gln) variant of ACADVL (P49748)
R459Q (p.Arg459Gln) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R459Q (p.Arg459Gln) variant details
- p.Arg459Gln
- rs751995154
- ClinGen CA312275
- ClinVar RCV000185726
- ClinVar RCV000412089
- Pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.86
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- 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: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)