p.Gly21 Pro24delinsAla variant of GATA3 (P23771)
p.Gly21 Pro24delinsAla in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly21 Pro24delinsAla variant details
- rs1203967321
- gnomAD 10-8055716-GGGCAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 22.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available