E6del (p.Glu6del) variant of EPAS1 (Q99814)
E6del (p.Glu6del) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E6del (p.Glu6del) variant details
- gnomAD 2-46297924-AAGG-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 22.70
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available