T4A (p.Thr4Ala) variant of GATA3 (P23771)
T4A (p.Thr4Ala) in GATA3 (P23771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
T4A (p.Thr4Ala) variant details
- p.Thr4Ala
- rs1274932119
- ClinGen CA375964915
- ClinVar RCV003218927
- gnomAD rs1274932119
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.26
- MetaLR 0.57
- MetaSVM -0.31
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00012)
- Structural context available