A36D (p.Ala36Asp) variant of EDNRB (Endothelin receptor type B)
A36D (p.Ala36Asp) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A36D (p.Ala36Asp) variant details
- p.Ala36Asp
- ExAC rs752856831
- gnomAD rs752856831
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available