S58F (p.Ser58Phe) variant of EDNRB (Endothelin receptor type B)
S58F (p.Ser58Phe) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S58F (p.Ser58Phe) variant details
- p.Ser58Phe
- gnomAD rs1879926816
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 21.20
- Population evidence available
- Structural context available