R511Q (p.Arg511Gln) variant of ACADVL (P49748)
R511Q (p.Arg511Gln) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R511Q (p.Arg511Gln) variant details
- p.Arg511Gln
- rs200771970
- ClinGen CA312279
- NCI-TCGA Cosmic COSV5003
- cosmic curated COSV50035
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.65
- CADD 35.00
- PolyPhen-2 0.24
- SIFT 0.02
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)