Y69C (p.Tyr69Cys) variant of GATA1 (Erythroid transcription factor)
Y69C (p.Tyr69Cys) 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.
Y69C (p.Tyr69Cys) variant details
- p.Tyr69Cys
- gnomAD rs1557020068
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.55
- MetaLR 0.92
- MetaSVM 0.88
- CADD 23.10
- PolyPhen-2 0.62
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available