E30E (p.Glu30Glu) variant of EPAS1 (Q99814)
E30E (p.Glu30Glu) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E30E (p.Glu30Glu) variant details
- p.Glu30Glu
- rs774946498
- gnomAD 2-46346936-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 11.00
- Population evidence available
- Structural context available
- Literature evidence available