T4K (p.Thr4Lys) variant of GATA3 (P23771)
T4K (p.Thr4Lys) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
T4K (p.Thr4Lys) variant details
- p.Thr4Lys
- gnomAD 10-8055666-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.41
- MetaLR 0.77
- MetaSVM 0.57
- CADD 24.30
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available