R23Q (p.Arg23Gln) variant of ACADVL (P49748)
R23Q (p.Arg23Gln) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- rs34153370
- ClinGen CA341524
- ClinVar RCV000020079
- ClinVar RCV000755204
- Benign
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.12
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Benign (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PIMA population (allele frequency 0.23)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)