D25E (p.Asp25Glu) variant of GATA3 (P23771)
D25E (p.Asp25Glu) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D25E (p.Asp25Glu) variant details
- p.Asp25Glu
- gnomAD 10-8055730-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.34
- AlphaMissense 0.93
- MetaLR 0.77
- MetaSVM 0.59
- CADD 21.70
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available