A11V (p.Ala11Val) variant of EDNRB (Endothelin receptor type B)
A11V (p.Ala11Val) 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.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- ExAC rs754162462
- TOPMed rs754162462
- gnomAD rs754162462
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.59
- Population evidence available
- Structural context available