S29S (p.Ser29Ser) variant of EDN1 (Endothelin-1)
S29S (p.Ser29Ser) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S29S (p.Ser29Ser) variant details
- p.Ser29Ser
- rs759759347
- gnomAD 6-12292363-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 8.64
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available