L19I (p.Leu19Ile) variant of GATA3 (P23771)
L19I (p.Leu19Ile) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L19I (p.Leu19Ile) variant details
- p.Leu19Ile
- gnomAD 10-8055710-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.35
- MetaLR 0.79
- MetaSVM 0.41
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available