E43* (p.Glu43Ter) variant of ACADM (P11310)
E43* (p.Glu43Ter) in ACADM (P11310) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E43* (p.Glu43Ter) variant details
- p.Glu43Ter
- gnomAD 1-75732652-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available