Q7K (p.Gln7Lys) variant of GATA3 (P23771)
Q7K (p.Gln7Lys) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Q7K (p.Gln7Lys) variant details
- p.Gln7Lys
- gnomAD 10-8055674-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.74
- MetaLR 0.94
- MetaSVM 1.07
- CADD 27.50
- PolyPhen-2 0.94
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available