P44P (p.Pro44Pro) variant of EPAS1 (Q99814)
P44P (p.Pro44Pro) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P44P (p.Pro44Pro) variant details
- p.Pro44Pro
- gnomAD 2-46346978-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0937
- CADD 1.84
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available