Q45* (p.Gln45Ter) variant of ACADM (P11310)
Q45* (p.Gln45Ter) in ACADM (P11310) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
Q45* (p.Gln45Ter) variant details
- p.Gln45Ter
- TOPMed rs1378433976
- gnomAD rs1378433976
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 41.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available