G222R (p.Gly222Arg) variant of ACADVL (P49748)
G222R (p.Gly222Arg) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G222R (p.Gly222Arg) variant details
- p.Gly222Arg
- rs398123091
- ClinGen CA397723419
- ClinVar RCV001576582
- ClinVar RCV001803373
- Pathogenic/Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.98
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)