Q13* (p.Gln13Ter) variant of ACADVL (P49748)
Q13* (p.Gln13Ter) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q13* (p.Gln13Ter) variant details
- p.Gln13Ter
- rs63750670
- ClinGen CA287433650
- ClinVar RCV001003624
- ClinVar RCV002472377
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 18.60
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)