C40* (p.Cys40Ter) variant of IL33 (Interleukin-33)
C40* (p.Cys40Ter) in IL33 (Interleukin-33) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
C40* (p.Cys40Ter) variant details
- p.Cys40Ter
- gnomAD 9-6250502-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 32.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available