R32Q (p.Arg32Gln) variant of ACADVL (P49748)
R32Q (p.Arg32Gln) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R32Q (p.Arg32Gln) variant details
- p.Arg32Gln
- rs754806489
- ClinGen CA8337544
- ClinVar RCV000690917
- ExAC rs754806489
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.14
- CADD 11.90
- PolyPhen-2 0.02
- SIFT 0.37
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0002)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)