S34Y (p.Ser34Tyr) variant of GATA3 (P23771)
S34Y (p.Ser34Tyr) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S34Y (p.Ser34Tyr) variant details
- p.Ser34Tyr
- gnomAD 10-8055756-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.52
- MetaLR 0.84
- MetaSVM 0.63
- CADD 21.20
- PolyPhen-2 0.37
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available