H27H (p.His27His) variant of GATA3 (P23771)
H27H (p.His27His) in GATA3 (P23771) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
H27H (p.His27His) variant details
- p.His27His
- rs868292114
- gnomAD 10-8055736-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 13.70
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available