S32I (p.Ser32Ile) variant of GATA3 (P23771)
S32I (p.Ser32Ile) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
S32I (p.Ser32Ile) variant details
- p.Ser32Ile
- gnomAD 10-8055750-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.24
- MetaLR 0.76
- MetaSVM -0.01
- CADD 24.50
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Literature evidence available