E28Q (p.Glu28Gln) variant of EDNRB (Endothelin receptor type B)
E28Q (p.Glu28Gln) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- Ensembl rs1879934925
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available