E2K (p.Glu2Lys) variant of GATA3 (P23771)
E2K (p.Glu2Lys) 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 and published literature.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- gnomAD 10-8055659-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.83
- MetaLR 0.94
- MetaSVM 1.06
- CADD 32.00
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Literature evidence available