L5F (p.Leu5Phe) variant of EDN1 (Endothelin-1)
L5F (p.Leu5Phe) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- gnomAD 6-12290642-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.19
- MetaLR 0.14
- MetaSVM -0.92
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available