P8T (p.Pro8Thr) variant of GATA3 (P23771)
P8T (p.Pro8Thr) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- gnomAD 10-8055677-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.62
- MetaLR 0.91
- MetaSVM 0.98
- CADD 24.40
- PolyPhen-2 0.90
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available