S57F (p.Ser57Phe) variant of EDN1 (Endothelin-1)
S57F (p.Ser57Phe) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S57F (p.Ser57Phe) variant details
- p.Ser57Phe
- gnomAD 6-12292446-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.61
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available