E40* (p.Glu40Ter) variant of ACADM (P11310)
E40* (p.Glu40Ter) 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, published literature, and structural context.
E40* (p.Glu40Ter) variant details
- p.Glu40Ter
- gnomAD 1-75728488-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 55.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available