D6E (p.Asp6Glu) variant of GATA3 (P23771)
D6E (p.Asp6Glu) in GATA3 (P23771) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- 1000Genomes rs536685812
- TOPMed rs536685812
- gnomAD rs536685812
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.28
- MetaLR 0.64
- MetaSVM -0.14
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.60
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available