P88L (p.Pro88Leu) variant of EDNRB (Endothelin receptor type B)
P88L (p.Pro88Leu) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- ExAC rs200756568
- TOPMed rs200756568
- gnomAD rs200756568
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 25.40
- PolyPhen-2 0.46
- SIFT 0.00
- Population evidence available
- Structural context available