S50F (p.Ser50Phe) variant of EDN1 (Endothelin-1)
S50F (p.Ser50Phe) 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.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- ESP rs372723252
- ExAC rs372723252
- gnomAD rs372723252
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.26
- MetaLR 0.34
- MetaSVM -0.61
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.33
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available