S32C (p.Ser32Cys) variant of GATA3 (P23771)
S32C (p.Ser32Cys) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
S32C (p.Ser32Cys) variant details
- p.Ser32Cys
- gnomAD 10-8055749-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.32
- AlphaMissense 0.97
- MetaLR 0.81
- MetaSVM 0.79
- CADD 25.60
- PolyPhen-2 1.00
- Population evidence available
- Literature evidence available