E67D (p.Glu67Asp) variant of GATA1 (Erythroid transcription factor)
E67D (p.Glu67Asp) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E67D (p.Glu67Asp) variant details
- p.Glu67Asp
- gnomAD X-48791310-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.29
- MetaLR 0.75
- MetaSVM 0.26
- CADD 1.55
- PolyPhen-2 0.07
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available