S12S (p.Ser12Ser) variant of GATA3 (P23771)
S12S (p.Ser12Ser) in GATA3 (P23771) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- rs2131482223
- gnomAD 10-8055691-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 16.10
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available
- Literature evidence available