Y35Y (p.Tyr35Tyr) variant of EPAS1 (Q99814)
Y35Y (p.Tyr35Tyr) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
Y35Y (p.Tyr35Tyr) variant details
- p.Tyr35Tyr
- gnomAD 2-46346951-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0963
- CADD 2.21
- Population evidence available
- Structural context available
- Literature evidence available