T52T (p.Thr52Thr) variant of GATA1 (Erythroid transcription factor)
T52T (p.Thr52Thr) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
T52T (p.Thr52Thr) variant details
- p.Thr52Thr
- rs2062674094
- gnomAD X-48791265-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.90
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available