G26R (p.Gly26Arg) variant of EDNRB (Endothelin receptor type B)
G26R (p.Gly26Arg) 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 0.64 / 1. The record also includes population frequency data and structural context.
G26R (p.Gly26Arg) variant details
- p.Gly26Arg
- rs1235599209
- ClinGen CA388453094
- ClinVar RCV001758372
- gnomAD rs1235599209
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 22.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available