T48T (p.Thr48Thr) variant of GATA1 (Erythroid transcription factor)
T48T (p.Thr48Thr) 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.
T48T (p.Thr48Thr) variant details
- p.Thr48Thr
- rs1557020040
- gnomAD X-48791253-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0937
- CADD 1.84
- Most common in the Non-Finnish European population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available