H23Q (p.His23Gln) variant of GATA3 (P23771)
H23Q (p.His23Gln) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
H23Q (p.His23Gln) variant details
- p.His23Gln
- gnomAD 10-8055724-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.70
- MetaLR 0.92
- MetaSVM 0.89
- CADD 23.70
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available