L4F (p.Leu4Phe) variant of EDN1 (Endothelin-1)
L4F (p.Leu4Phe) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- gnomAD 6-12290641-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.17
- MetaLR 0.05
- MetaSVM -0.95
- CADD 9.83
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available