E41* (p.Glu41Ter) variant of EPHA3 (Ephrin type-A receptor 3)
E41* (p.Glu41Ter) in EPHA3 (Ephrin type-A receptor 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E41* (p.Glu41Ter) variant details
- p.Glu41Ter
- ESP rs374211029
- ExAC rs374211029
- TOPMed rs374211029
- gnomAD rs374211029
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 41.00
- Population evidence available
- Structural context available