Q2* (p.Gln2Ter) variant of ACADVL (P49748)
Q2* (p.Gln2Ter) in ACADVL (P49748) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Q2* (p.Gln2Ter) variant details
- p.Gln2Ter
- rs2508229196
- ClinGen CA397721899
- ClinVar RCV002838630
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 19.10
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)