T4R (p.Thr4Arg) variant of GATA3 (P23771)
T4R (p.Thr4Arg) 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.
T4R (p.Thr4Arg) variant details
- p.Thr4Arg
- Ensembl rs2131482118
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.45
- MetaLR 0.77
- MetaSVM 0.66
- CADD 24.40
- PolyPhen-2 0.14
- SIFT 0.00
- Population evidence available
- Structural context available