E13E (p.Glu13Glu) variant of EPAS1 (Q99814)
E13E (p.Glu13Glu) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E13E (p.Glu13Glu) variant details
- p.Glu13Glu
- rs1425406524
- gnomAD 2-46346885-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 8.71
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available