S54S (p.Ser54Ser) variant of EDN1 (Endothelin-1)
S54S (p.Ser54Ser) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S54S (p.Ser54Ser) variant details
- p.Ser54Ser
- rs1320555550
- gnomAD 6-12292438-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 14.80
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available