T54T (p.Thr54Thr) variant of GATA1 (Erythroid transcription factor)
T54T (p.Thr54Thr) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T54T (p.Thr54Thr) variant details
- p.Thr54Thr
- rs782591058
- gnomAD X-48791271-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0886
- CADD 1.12
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Literature evidence available