S30S (p.Ser30Ser) variant of GATA1 (Erythroid transcription factor)
S30S (p.Ser30Ser) 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.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- gnomAD X-48791199-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0911
- CADD 1.47
- Population evidence available
- Structural context available
- Literature evidence available