A5T (p.Ala5Thr) variant of GATA3 (P23771)
A5T (p.Ala5Thr) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- gnomAD 10-8055668-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.31
- MetaLR 0.77
- MetaSVM 0.11
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available