Y35* (p.Tyr35Ter) variant of EPAS1 (Q99814)
Y35* (p.Tyr35Ter) in EPAS1 (Q99814) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Y35* (p.Tyr35Ter) variant details
- p.Tyr35Ter
- gnomAD 2-46346951-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available