H33N (p.His33Asn) variant of GATA3 (P23771)
H33N (p.His33Asn) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
H33N (p.His33Asn) variant details
- p.His33Asn
- Ensembl rs1832622309
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.83
- MetaLR 0.95
- MetaSVM 1.08
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.04
- Population evidence available
- Structural context available