E2D (p.Glu2Asp) variant of GATA1 (Erythroid transcription factor)
E2D (p.Glu2Asp) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD X-48791115-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.31
- MetaLR 0.63
- MetaSVM -0.15
- CADD 6.94
- PolyPhen-2 0.00
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available