R14R (p.Arg14Arg) variant of EPAS1 (Q99814)
R14R (p.Arg14Arg) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R14R (p.Arg14Arg) variant details
- p.Arg14Arg
- gnomAD 2-46346888-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 10.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available