Q17Q (p.Gln17Gln) variant of GATA1 (Erythroid transcription factor)
Q17Q (p.Gln17Gln) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q17Q (p.Gln17Gln) variant details
- p.Gln17Gln
- gnomAD X-48791160-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 5.13
- Population evidence available
- Structural context available
- Literature evidence available