S57S (p.Ser57Ser) variant of EDN1 (Endothelin-1)
S57S (p.Ser57Ser) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S57S (p.Ser57Ser) variant details
- p.Ser57Ser
- gnomAD 6-12292447-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 11.20
- Population evidence available
- Structural context available
- Literature evidence available