D6Y (p.Asp6Tyr) variant of GATA3 (P23771)
D6Y (p.Asp6Tyr) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D6Y (p.Asp6Tyr) variant details
- p.Asp6Tyr
- gnomAD 10-8055671-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.82
- MetaLR 0.92
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available