L19P (p.Leu19Pro) variant of GATA3 (P23771)
L19P (p.Leu19Pro) 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 and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- Ensembl rs2131482396
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.79
- MetaLR 0.93
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 0.79
- SIFT 0.04
- Population evidence available
- Structural context available