E70K (p.Glu70Lys) variant of EDNRB (Endothelin receptor type B)
E70K (p.Glu70Lys) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E70K (p.Glu70Lys) variant details
- p.Glu70Lys
- rs748181676
- ExAC rs748181676
- gnomAD rs748181676
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available