E44V (p.Glu44Val) variant of EDNRB (Endothelin receptor type B)
E44V (p.Glu44Val) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E44V (p.Glu44Val) variant details
- p.Glu44Val
- ExAC rs755457512
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.08
- Population evidence available
- Structural context available