P8L (p.Pro8Leu) variant of GATA3 (P23771)
P8L (p.Pro8Leu) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- gnomAD 10-8055678-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.68
- MetaLR 0.92
- MetaSVM 1.00
- CADD 29.40
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available