S12S (p.Ser12Ser) variant of GATA1 (Erythroid transcription factor)
S12S (p.Ser12Ser) 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.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- rs782408441
- gnomAD X-48791145-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0898
- CADD 1.29
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available