A17T (p.Ala17Thr) variant of GATA3 (P23771)
A17T (p.Ala17Thr) 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 0.68 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- NCI-TCGA TCGA novel
- TOPMed rs1170316331
- gnomAD rs1170316331
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.62
- MetaLR 0.89
- MetaSVM 0.93
- CADD 25.30
- PolyPhen-2 0.39
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available