Y63C (p.Tyr63Cys) variant of GATA1 (Erythroid transcription factor)
Y63C (p.Tyr63Cys) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Y63C (p.Tyr63Cys) variant details
- p.Tyr63Cys
- TOPMed rs1170375325
- gnomAD rs1170375325
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.58
- MetaLR 0.89
- MetaSVM 0.52
- CADD 22.90
- PolyPhen-2 0.62
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available