E17del (p.Glu17del) variant of EPAS1 (Q99814)
E17del (p.Glu17del) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E17del (p.Glu17del) variant details
- rs1271482137
- gnomAD 2-46346892-AAGG-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 21.20
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Literature evidence available