H23H (p.His23His) variant of GATA3 (P23771)
H23H (p.His23His) in GATA3 (P23771) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
H23H (p.His23His) variant details
- p.His23His
- rs138345596
- gnomAD 10-8055724-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 12.10
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available