A53A (p.Ala53Ala) variant of GATA1 (Erythroid transcription factor)
A53A (p.Ala53Ala) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A53A (p.Ala53Ala) variant details
- p.Ala53Ala
- gnomAD X-48791268-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 10.30
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Literature evidence available