R9R (p.Arg9Arg) variant of EPAS1 (Q99814)
R9R (p.Arg9Arg) in EPAS1 (Q99814) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R9R (p.Arg9Arg) variant details
- p.Arg9Arg
- rs751410995
- gnomAD 2-46346873-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 22.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Literature evidence available