Q22E (p.Gln22Glu) variant of GATA3 (P23771)
Q22E (p.Gln22Glu) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q22E (p.Gln22Glu) variant details
- p.Gln22Glu
- gnomAD 10-8055719-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.62
- MetaLR 0.93
- MetaSVM 1.03
- CADD 25.80
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available