E58* (p.Glu58Ter) variant of CD40 (P25942)
E58* (p.Glu58Ter) in CD40 (P25942) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E58* (p.Glu58Ter) variant details
- p.Glu58Ter
- gnomAD 20-46122274-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 28.60
- Population evidence available
- Structural context available
- Literature evidence available