I94M (p.Ile94Met) variant of EDNRB (Endothelin receptor type B)
I94M (p.Ile94Met) 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 0.12 / 1. The record also includes population frequency data and structural context.
I94M (p.Ile94Met) variant details
- p.Ile94Met
- rs748380116
- ClinGen CA388452674
- ClinVar RCV003668707
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 7.38
- PolyPhen-2 0.43
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available