D65D (p.Asp65Asp) variant of GATA1 (Erythroid transcription factor)
D65D (p.Asp65Asp) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D65D (p.Asp65Asp) variant details
- p.Asp65Asp
- rs1557020060
- gnomAD X-48791304-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0829
- CADD 0.31
- Most common in the Middle Eastern population (allele frequency 0.00027)
- Structural context available
- Literature evidence available