E2G (p.Glu2Gly) variant of GATA3 (P23771)
E2G (p.Glu2Gly) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and published literature.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- gnomAD 10-8055660-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.86
- MetaLR 0.94
- MetaSVM 1.05
- CADD 33.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Literature evidence available