V47V (p.Val47Val) variant of EPAS1 (Q99814)
V47V (p.Val47Val) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V47V (p.Val47Val) variant details
- p.Val47Val
- gnomAD 2-46346987-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 8.87
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available