P73T (p.Pro73Thr) variant of GATA1 (Erythroid transcription factor)
P73T (p.Pro73Thr) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P73T (p.Pro73Thr) variant details
- p.Pro73Thr
- gnomAD X-48791326-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.44
- MetaLR 0.92
- MetaSVM 0.86
- CADD 15.90
- PolyPhen-2 0.14
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available