L31I (p.Leu31Ile) variant of GATA3 (P23771)
L31I (p.Leu31Ile) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L31I (p.Leu31Ile) variant details
- p.Leu31Ile
- gnomAD 10-8055746-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.51
- AlphaMissense 0.67
- MetaLR 0.79
- MetaSVM 0.66
- CADD 26.30
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available