E2* (p.Glu2Ter) variant of GATA3 (P23771)
E2* (p.Glu2Ter) in GATA3 (P23771) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and published literature.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- gnomAD 10-8055659-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 42.00
- Population evidence available
- Literature evidence available