L43L (p.Leu43Leu) variant of EPAS1 (Q99814)
L43L (p.Leu43Leu) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- rs752221582
- gnomAD 2-46346973-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 10.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available