S32G (p.Ser32Gly) variant of GATA3 (P23771)
S32G (p.Ser32Gly) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and published literature.
S32G (p.Ser32Gly) variant details
- p.Ser32Gly
- gnomAD 10-8055749-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.26
- AlphaMissense 0.95
- MetaLR 0.75
- MetaSVM 0.51
- CADD 19.40
- PolyPhen-2 1.00
- Population evidence available
- Literature evidence available