P8Q (p.Pro8Gln) variant of GATA3 (P23771)
P8Q (p.Pro8Gln) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P8Q (p.Pro8Gln) variant details
- p.Pro8Gln
- gnomAD 10-8055678-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.65
- MetaLR 0.93
- MetaSVM 1.01
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available