L51V (p.Leu51Val) variant of EPAS1 (Q99814)
L51V (p.Leu51Val) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- gnomAD 2-46346997-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.36
- CADD 24.50
- PolyPhen-2 0.77
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available