Y62F (p.Tyr62Phe) variant of GATA1 (Erythroid transcription factor)
Y62F (p.Tyr62Phe) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Y62F (p.Tyr62Phe) variant details
- p.Tyr62Phe
- gnomAD X-48791294-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.44
- MetaLR 0.88
- MetaSVM 0.52
- CADD 19.10
- PolyPhen-2 0.44
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available