R26R (p.Arg26Arg) variant of EPAS1 (Q99814)
R26R (p.Arg26Arg) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R26R (p.Arg26Arg) variant details
- p.Arg26Arg
- gnomAD 2-46346922-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 12.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available