Y35F (p.Tyr35Phe) variant of GATA3 (P23771)
Y35F (p.Tyr35Phe) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Y35F (p.Tyr35Phe) variant details
- p.Tyr35Phe
- TOPMed rs1310091920
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.73
- MetaLR 0.92
- MetaSVM 0.94
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available