I103V (p.Ile103Val) variant of EDNRB (Endothelin receptor type B)
I103V (p.Ile103Val) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
I103V (p.Ile103Val) variant details
- p.Ile103Val
- TOPMed rs894919134
- gnomAD rs894919134
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 22.60
- PolyPhen-2 0.13
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available