I94V (p.Ile94Val) variant of EDNRB (Endothelin receptor type B)
I94V (p.Ile94Val) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I94V (p.Ile94Val) variant details
- p.Ile94Val
- ExAC rs772055405
- TOPMed rs772055405
- gnomAD rs772055405
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available