G10V (p.Gly10Val) variant of GATA1 (Erythroid transcription factor)
G10V (p.Gly10Val) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- gnomAD X-48791138-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.49
- MetaLR 0.79
- MetaSVM 0.51
- CADD 16.40
- PolyPhen-2 0.29
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available