E32E (p.Glu32Glu) variant of EPAS1 (Q99814)
E32E (p.Glu32Glu) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E32E (p.Glu32Glu) variant details
- p.Glu32Glu
- rs772679458
- gnomAD 2-46346942-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.224
- CADD 9.84
- Population evidence available
- Structural context available
- Literature evidence available