S56S (p.Ser56Ser) variant of EDN1 (Endothelin-1)
S56S (p.Ser56Ser) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S56S (p.Ser56Ser) variant details
- p.Ser56Ser
- rs753421498
- gnomAD 6-12292444-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0886
- CADD 1.13
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available