A2E (p.Ala2Glu) variant of ACADM (P11310)
A2E (p.Ala2Glu) in ACADM (P11310) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 1-75724791-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available