V47E (p.Val47Glu) variant of EPAS1 (Q99814)
V47E (p.Val47Glu) in EPAS1 (Q99814) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V47E (p.Val47Glu) variant details
- p.Val47Glu
- rs1558596524
- gnomAD 2-46346982-AGT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 27.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available