H15del (p.His15del) variant of GATA3 (P23771)
H15del (p.His15del) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
H15del (p.His15del) variant details
- rs1437230699
- gnomAD 10-8055690-GCCA-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 22.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available