H28del (p.His28del) variant of GATA3 (P23771)
H28del (p.His28del) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H28del (p.His28del) variant details
- gnomAD 10-8055733-GCAC-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 22.20
- Most common in the South Asian population (allele frequency 6.2e-05)
- Structural context available
- Literature evidence available