G35S (p.Gly35Ser) variant of EDN1 (Endothelin-1)
G35S (p.Gly35Ser) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G35S (p.Gly35Ser) variant details
- p.Gly35Ser
- ExAC rs755650656
- TOPMed rs755650656
- gnomAD rs755650656
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.15
- MetaLR 0.17
- MetaSVM -0.92
- CADD 3.96
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available