E51* (p.Glu51Ter) variant of JAK3 (Tyrosine-protein kinase JAK3)
E51* (p.Glu51Ter) in JAK3 (Tyrosine-protein kinase JAK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E51* (p.Glu51Ter) variant details
- p.Glu51Ter
- cosmic curated COSV71685
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.866
- CADD 39.00
- Population evidence available
- Structural context available