A17D (p.Ala17Asp) variant of GATA3 (P23771)
A17D (p.Ala17Asp) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A17D (p.Ala17Asp) variant details
- p.Ala17Asp
- gnomAD 10-8055705-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.79
- MetaLR 0.92
- MetaSVM 1.00
- CADD 27.70
- PolyPhen-2 0.66
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available