P28S (p.Pro28Ser) variant of GATA1 (Erythroid transcription factor)
P28S (p.Pro28Ser) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- gnomAD X-48791191-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.24
- MetaLR 0.72
- MetaSVM 0.02
- CADD 7.81
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available