T11I (p.Thr11Ile) variant of GATA1 (Erythroid transcription factor)
T11I (p.Thr11Ile) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
T11I (p.Thr11Ile) variant details
- p.Thr11Ile
- gnomAD X-48791141-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.37
- MetaLR 0.82
- MetaSVM 0.48
- CADD 20.30
- PolyPhen-2 0.33
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available