S56L (p.Ser56Leu) variant of EDN1 (Endothelin-1)
S56L (p.Ser56Leu) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S56L (p.Ser56Leu) variant details
- p.Ser56Leu
- gnomAD 6-12292443-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.49
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available