R20R (p.Arg20Arg) variant of EPAS1 (Q99814)
R20R (p.Arg20Arg) 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.
R20R (p.Arg20Arg) variant details
- p.Arg20Arg
- rs2103616123
- gnomAD 2-46346906-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0906
- CADD 1.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available