H28H (p.His28His) variant of GATA3 (P23771)
H28H (p.His28His) in GATA3 (P23771) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H28H (p.His28His) variant details
- p.His28His
- rs2131482581
- gnomAD 10-8055739-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 13.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available