P28Q (p.Pro28Gln) variant of GATA1 (Erythroid transcription factor)
P28Q (p.Pro28Gln) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P28Q (p.Pro28Gln) variant details
- p.Pro28Gln
- gnomAD X-48791192-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.22
- MetaLR 0.80
- MetaSVM 0.14
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available