S72S (p.Ser72Ser) variant of GATA1 (Erythroid transcription factor)
S72S (p.Ser72Ser) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S72S (p.Ser72Ser) variant details
- p.Ser72Ser
- rs1180375270
- gnomAD X-48791325-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 6.67
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Literature evidence available