E26* (p.Glu26Ter) variant of NRXN1 (Neurexin-1)
E26* (p.Glu26Ter) in NRXN1 (Neurexin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E26* (p.Glu26Ter) variant details
- p.Glu26Ter
- ExAC rs201847846
- TOPMed rs201847846
- gnomAD rs201847846
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available