L59L (p.Leu59Leu) variant of EPAS1 (Q99814)
L59L (p.Leu59Leu) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L59L (p.Leu59Leu) variant details
- p.Leu59Leu
- rs1329545903
- gnomAD 2-46347021-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 9.82
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available
- Literature evidence available