R37* (p.Arg37Ter) variant of ACAD9 (Q9H845)
R37* (p.Arg37Ter) 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 0.38 / 1. The record also includes population frequency data and structural context.
R37* (p.Arg37Ter) variant details
- p.Arg37Ter
- rs936842682
- ClinGen CA82514269
- ClinVar RCV001898277
- TOPMed rs936842682
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available