R37Q (p.Arg37Gln) variant of ACADVL (P49748)
R37Q (p.Arg37Gln) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- rs2508236993
- ClinGen CA397722106
- ClinVar RCV002636383
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.25
- CADD 3.02
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)