E44D (p.Glu44Asp) variant of EDNRB (Endothelin receptor type B)
E44D (p.Glu44Asp) 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.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- TOPMed rs1401360436
- gnomAD rs1401360436
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 15.70
- PolyPhen-2 0.04
- SIFT 0.23
- Population evidence available
- Structural context available