T52I (p.Thr52Ile) variant of GATA1 (Erythroid transcription factor)
T52I (p.Thr52Ile) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- gnomAD X-48791264-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.24
- MetaLR 0.79
- MetaSVM 0.16
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available