C15F (p.Cys15Phe) variant of EDN1 (Endothelin-1)
C15F (p.Cys15Phe) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
C15F (p.Cys15Phe) variant details
- p.Cys15Phe
- ExAC rs73722760
- gnomAD rs73722760
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.17
- MetaLR 0.04
- MetaSVM -0.91
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available