G30C (p.Gly30Cys) variant of GATA3 (P23771)
G30C (p.Gly30Cys) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G30C (p.Gly30Cys) variant details
- p.Gly30Cys
- gnomAD 10-8055743-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.69
- MetaLR 0.91
- MetaSVM 0.95
- CADD 29.90
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available