A59E (p.Ala59Glu) variant of GATA1 (Erythroid transcription factor)
A59E (p.Ala59Glu) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A59E (p.Ala59Glu) variant details
- p.Ala59Glu
- gnomAD X-48791285-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.43
- MetaLR 0.80
- MetaSVM 0.09
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available