G10W (p.Gly10Trp) variant of GATA1 (Erythroid transcription factor)
G10W (p.Gly10Trp) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G10W (p.Gly10Trp) variant details
- p.Gly10Trp
- gnomAD X-48791137-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.50
- MetaLR 0.91
- MetaSVM 1.06
- CADD 23.60
- PolyPhen-2 0.92
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available