I85V (p.Ile85Val) variant of EDNRB (Endothelin receptor type B)
I85V (p.Ile85Val) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes structural context.
I85V (p.Ile85Val) variant details
- p.Ile85Val
- rs1879919327
- ClinGen CA388452733
- ClinVar RCV001890612
- TOPMed rs1879919327
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.06
- MetaLR 0.04
- MetaSVM -1.05
- PolyPhen-2 0.00
- SIFT 0.29
- EVE 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available