A55A (p.Ala55Ala) variant of GATA1 (Erythroid transcription factor)
A55A (p.Ala55Ala) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A55A (p.Ala55Ala) variant details
- p.Ala55Ala
- gnomAD X-48791274-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.36
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available