L41L (p.Leu41Leu) variant of EPAS1 (Q99814)
L41L (p.Leu41Leu) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L41L (p.Leu41Leu) variant details
- p.Leu41Leu
- gnomAD 2-46346969-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 11.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available