G20* (p.Gly20Ter) variant of ACADVL (P49748)
G20* (p.Gly20Ter) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G20* (p.Gly20Ter) variant details
- p.Gly20Ter
- rs2508231433
- ClinGen CA397722002
- ClinVar RCV002717372
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 8.60
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)