H15R (p.His15Arg) variant of GATA3 (P23771)
H15R (p.His15Arg) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
H15R (p.His15Arg) variant details
- p.His15Arg
- gnomAD 10-8055699-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.78
- MetaLR 0.93
- MetaSVM 1.05
- CADD 28.20
- PolyPhen-2 0.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available