R64M (p.Arg64Met) variant of GATA1 (Erythroid transcription factor)
R64M (p.Arg64Met) 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.
R64M (p.Arg64Met) variant details
- p.Arg64Met
- gnomAD X-48791300-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.54
- MetaLR 0.90
- MetaSVM 0.57
- CADD 22.60
- PolyPhen-2 0.43
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available