R23L (p.Arg23Leu) variant of ACADVL (P49748)
R23L (p.Arg23Leu) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R23L (p.Arg23Leu) variant details
- p.Arg23Leu
- rs34153370
- ClinGen CA397722029
- ClinVar RCV002048630
- 1000Genomes rs34153370
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.30
- CADD 19.20
- PolyPhen-2 0.05
- SIFT 0.05
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)