Y35C (p.Tyr35Cys) variant of GATA3 (P23771)
Y35C (p.Tyr35Cys) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
Y35C (p.Tyr35Cys) variant details
- p.Tyr35Cys
- cosmic curated COSV10065
- TOPMed rs1310091920
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.85
- MetaLR 0.94
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available