V33E (p.Val33Glu) variant of EPAS1 (Q99814)
V33E (p.Val33Glu) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V33E (p.Val33Glu) variant details
- p.Val33Glu
- gnomAD 2-46346944-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.56
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available