H28Y (p.His28Tyr) variant of GATA3 (P23771)
H28Y (p.His28Tyr) in GATA3 (P23771) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
H28Y (p.His28Tyr) variant details
- p.His28Tyr
- ExAC rs202045701
- TOPMed rs202045701
- gnomAD rs202045701
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.71
- MetaLR 0.93
- MetaSVM 1.06
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available