H27N (p.His27Asn) variant of GATA3 (P23771)
H27N (p.His27Asn) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
H27N (p.His27Asn) variant details
- p.His27Asn
- Ensembl rs2131482538
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.73
- MetaLR 0.93
- MetaSVM 1.05
- CADD 27.30
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available