S32T (p.Ser32Thr) variant of GATA3 (P23771)
S32T (p.Ser32Thr) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
S32T (p.Ser32Thr) variant details
- p.Ser32Thr
- gnomAD 10-8055750-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.24
- MetaLR 0.72
- MetaSVM -0.14
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Literature evidence available