E39E (p.Glu39Glu) variant of GATA1 (Erythroid transcription factor)
E39E (p.Glu39Glu) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E39E (p.Glu39Glu) variant details
- p.Glu39Glu
- rs892837818
- gnomAD X-48791226-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 8.13
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available
- Literature evidence available