H71H (p.His71His) variant of GATA1 (Erythroid transcription factor)
H71H (p.His71His) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H71H (p.His71His) variant details
- p.His71His
- gnomAD X-48791322-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0942
- CADD 1.91
- Population evidence available
- Structural context available
- Literature evidence available