C62* (p.Cys62Ter) variant of CD40 (P25942)
C62* (p.Cys62Ter) in CD40 (P25942) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
C62* (p.Cys62Ter) variant details
- p.Cys62Ter
- gnomAD 20-46122288-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available