Q7H (p.Gln7His) variant of GATA3 (P23771)
Q7H (p.Gln7His) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q7H (p.Gln7His) variant details
- p.Gln7His
- gnomAD 10-8055676-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.68
- MetaLR 0.93
- MetaSVM 0.97
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available