E32Q (p.Glu32Gln) variant of EPAS1 (Q99814)
E32Q (p.Glu32Gln) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E32Q (p.Glu32Gln) variant details
- p.Glu32Gln
- gnomAD 2-46346940-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.33
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available