E2D (p.Glu2Asp) variant of GATA3 (P23771)
E2D (p.Glu2Asp) in GATA3 (P23771) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.57
- MetaLR 0.88
- MetaSVM 0.89
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available