G79E (p.Gly79Glu) variant of EDNRB (Endothelin receptor type B)
G79E (p.Gly79Glu) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G79E (p.Gly79Glu) variant details
- p.Gly79Glu
- TOPMed rs1280900661
- gnomAD rs1280900661
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available