L51L (p.Leu51Leu) variant of EPAS1 (Q99814)
L51L (p.Leu51Leu) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L51L (p.Leu51Leu) variant details
- p.Leu51Leu
- rs1392803714
- gnomAD 2-46346997-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 11.40
- Population evidence available
- Structural context available
- Literature evidence available