A43A (p.Ala43Ala) variant of GATA1 (Erythroid transcription factor)
A43A (p.Ala43Ala) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A43A (p.Ala43Ala) variant details
- p.Ala43Ala
- gnomAD X-48791238-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.60
- Population evidence available
- Structural context available
- Literature evidence available