H15H (p.His15His) variant of GATA3 (P23771)
H15H (p.His15His) 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.
H15H (p.His15His) variant details
- p.His15His
- rs757149716
- gnomAD 10-8055700-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 14.00
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Literature evidence available