T4M (p.Thr4Met) variant of GATA3 (P23771)
T4M (p.Thr4Met) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
T4M (p.Thr4Met) variant details
- p.Thr4Met
- cosmic curated COSV10649
- Ensembl rs2131482118
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.42
- MetaLR 0.79
- MetaSVM 0.73
- CADD 26.70
- PolyPhen-2 0.47
- SIFT 0.00
- Population evidence available
- Structural context available