E63* (p.Glu63Ter) variant of ACAD9 (Q9H845)
E63* (p.Glu63Ter) in ACAD9 (Q9H845) 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 0.86 / 1. The record also includes population frequency data and structural context.
E63* (p.Glu63Ter) variant details
- p.Glu63Ter
- rs996004696
- ClinGen CA82516353
- ClinVar RCV001951053
- ClinVar RCV005025524
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available