R64W (p.Arg64Trp) variant of GATA1 (Erythroid transcription factor)
R64W (p.Arg64Trp) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R64W (p.Arg64Trp) variant details
- p.Arg64Trp
- gnomAD X-48791299-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.51
- MetaLR 0.89
- MetaSVM 0.57
- CADD 23.60
- PolyPhen-2 0.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available