V33V (p.Val33Val) variant of EPAS1 (Q99814)
V33V (p.Val33Val) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V33V (p.Val33Val) variant details
- p.Val33Val
- rs759108016
- gnomAD 2-46346945-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 11.10
- Population evidence available
- Structural context available
- Literature evidence available