E2V (p.Glu2Val) variant of GATA3 (P23771)
E2V (p.Glu2Val) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
E2V (p.Glu2Val) variant details
- p.Glu2Val
- gnomAD 10-8055660-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.86
- MetaLR 0.89
- MetaSVM 0.92
- CADD 32.00
- PolyPhen-2 0.49
- SIFT 0.00
- Population evidence available
- Literature evidence available