P4A (p.Pro4Ala) variant of EDNRB (Endothelin receptor type B)
P4A (p.Pro4Ala) 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.
P4A (p.Pro4Ala) variant details
- p.Pro4Ala
- ExAC rs777992864
- gnomAD rs777992864
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 9.46
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available