E29* (p.Glu29Ter) variant of EPHA3 (Ephrin type-A receptor 3)
E29* (p.Glu29Ter) in EPHA3 (Ephrin type-A receptor 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E29* (p.Glu29Ter) variant details
- p.Glu29Ter
- gnomAD 3-89107833-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available