S22* (p.Ser22Ter) variant of EDNRB (Endothelin receptor type B)
S22* (p.Ser22Ter) in EDNRB (Endothelin receptor type B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S22* (p.Ser22Ter) variant details
- p.Ser22Ter
- TOPMed rs1879936405
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 33.00
- Population evidence available
- Structural context available