S72T (p.Ser72Thr) variant of GATA1 (Erythroid transcription factor)
S72T (p.Ser72Thr) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S72T (p.Ser72Thr) variant details
- p.Ser72Thr
- gnomAD X-48791323-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.42
- MetaLR 0.90
- MetaSVM 0.76
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available