R366G (p.Arg366Gly) variant of ACADVL (P49748)
R366G (p.Arg366Gly) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R366G (p.Arg366Gly) variant details
- p.Arg366Gly
- rs771874163
- ClinGen CA8337963
- ClinVar RCV001952657
- ExAC rs771874163
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.97
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)