Q22* (p.Gln22Ter) variant of GATA3 (P23771)
Q22* (p.Gln22Ter) in GATA3 (P23771) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
Q22* (p.Gln22Ter) variant details
- p.Gln22Ter
- Ensembl rs2131482458
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.86
- CADD 38.00
- Population evidence available
- Structural context available