H13H (p.His13His) variant of GATA3 (P23771)
H13H (p.His13His) in GATA3 (P23771) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H13H (p.His13His) variant details
- p.His13His
- rs1832619670
- gnomAD 10-8055694-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 13.40
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available