H23N (p.His23Asn) variant of GATA3 (P23771)
H23N (p.His23Asn) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
H23N (p.His23Asn) variant details
- p.His23Asn
- gnomAD 10-8055722-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.75
- MetaLR 0.93
- MetaSVM 1.05
- CADD 26.70
- PolyPhen-2 0.66
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available