Q91E (p.Gln91Glu) variant of EDNRB (Endothelin receptor type B)
Q91E (p.Gln91Glu) 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.
Q91E (p.Gln91Glu) variant details
- p.Gln91Glu
- rs2137639673
- ClinGen CA388452697
- ClinVar RCV001770725
- Ensembl rs2137639673
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.88
- EVE 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available