G9V (p.Gly9Val) variant of EDNRB (Endothelin receptor type B)
G9V (p.Gly9Val) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- TOPMed rs1879939500
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 16.30
- PolyPhen-2 0.13
- SIFT 0.25
- Population evidence available
- Structural context available