E2E (p.Glu2Glu) variant of GATA3 (P23771)
E2E (p.Glu2Glu) in GATA3 (P23771) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- gnomAD 10-8055661-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 14.70
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Literature evidence available