Q69* (p.Gln69Ter) variant of ACAD9 (Q9H845)
Q69* (p.Gln69Ter) 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 0.57 / 1. The record also includes population frequency data and structural context.
Q69* (p.Gln69Ter) variant details
- p.Gln69Ter
- rs765060373
- ClinGen CA2601069
- ClinVar RCV001937919
- ClinVar RCV003464225
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available