Y62H (p.Tyr62His) variant of GATA1 (Erythroid transcription factor)
Y62H (p.Tyr62His) 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.
Y62H (p.Tyr62His) variant details
- p.Tyr62His
- gnomAD X-48791293-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.42
- MetaLR 0.89
- MetaSVM 0.57
- CADD 22.60
- PolyPhen-2 0.73
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available