C8G (p.Cys8Gly) variant of EDNRB (Endothelin receptor type B)
C8G (p.Cys8Gly) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
C8G (p.Cys8Gly) variant details
- p.Cys8Gly
- ExAC rs765870134
- TOPMed rs765870134
- gnomAD rs765870134
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 6.07
- PolyPhen-2 0.05
- SIFT 0.52
- Population evidence available
- Structural context available