L37L (p.Leu37Leu) variant of EPAS1 (Q99814)
L37L (p.Leu37Leu) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L37L (p.Leu37Leu) variant details
- p.Leu37Leu
- gnomAD 2-46346957-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 8.94
- Population evidence available
- Structural context available
- Literature evidence available