T4S (p.Thr4Ser) variant of GATA3 (P23771)
T4S (p.Thr4Ser) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T4S (p.Thr4Ser) variant details
- p.Thr4Ser
- gnomAD 10-8055665-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.27
- MetaLR 0.52
- MetaSVM -0.40
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available