S8Y (p.Ser8Tyr) variant of GATA1 (Erythroid transcription factor)
S8Y (p.Ser8Tyr) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S8Y (p.Ser8Tyr) variant details
- p.Ser8Tyr
- gnomAD X-48791132-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.29
- MetaLR 0.78
- MetaSVM 0.29
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available