V3M (p.Val3Met) variant of GATA3 (P23771)
V3M (p.Val3Met) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
V3M (p.Val3Met) variant details
- p.Val3Met
- gnomAD 10-8055662-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.62
- MetaLR 0.94
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available