I94S (p.Ile94Ser) variant of EDNRB (Endothelin receptor type B)
I94S (p.Ile94Ser) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I94S (p.Ile94Ser) variant details
- p.Ile94Ser
- TOPMed rs1235006032
- gnomAD rs1235006032
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available