P16L (p.Pro16Leu) variant of GATA3 (P23771)
P16L (p.Pro16Leu) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- gnomAD 10-8055702-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.65
- MetaLR 0.93
- MetaSVM 1.03
- CADD 24.50
- PolyPhen-2 0.23
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available